Facies
Abnormalities, Multiple
Face
Muscle Hypotonia
Intellectual Disability
Facial Dermatoses
Microcephaly
Alagille Syndrome
Dwarfism
Musculoskeletal Abnormalities
Facial Bones
Growth Disorders
Chromosome Disorders
Pedigree
Heart Defects, Congenital
Phenotype
Growth in Sotos syndrome. (1/242)
Although there are several reports on infant and childhood growth in patients with Sotos syndrome, there is little information on the final height achieved and puberty. Growth data on 40 patients (20 female and 20 male) aged 2-31 years were collected. These showed that patients with Sotos syndrome are excessively tall at birth, during infancy, and during childhood. Disproportionately long limbs constitute much of the increase in stature. However, the combination of advanced bone age and early onset of menarche led to a mean (SD) final height of 172.9 (5.7) cm in women. This is within the normal range for the population. Most of the men also attained a final height (mean, 184.3 cm; SD, 6.0) within the normal range, although exceptions were more likely in men than in women. Therefore, these results show that most patients with Sotos syndrome do not require intervention to limit their adult height. (+info)Study of the cell biology and biochemistry of cherubism. (2/242)
AIMS: To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in-depth modern biochemical study of four children in the same family. SUBJECTS AND METHODS: Four related children with cherubism were studied. Tissue taken from one of the children at elective decompression of an optic nerve was submitted to in vitro bone resorption studies. Cytogenetic studies were done on two of the children and biochemical studies on all four. RESULTS: The multinucleate cells in the cherubic lesions were shown to be osteoclasts since they synthesised tartrate resistant acid phosphatase, expressed the vitronectin receptor, and resorbed bone. Bone resorption by the cultured multinucleate cells was significantly inhibited by calcitonin. High resolution cytogenetic studies failed to detect any chromosomal abnormalities in two children with cherubism. The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels. Urine analysis of pyridinium and deoxypyridinium cross links, hydroxyproline, and calcium in relation to urine creatinine were measured to assess bone resorption in these children, and the values were at the upper end of the normal range in all four. CONCLUSIONS: Further studies are required to determine whether calcitonin treatment will control this grossly deforming disease until the time when the physiological changes that occur at puberty rectify the pathology. It is not recommended that biochemical markers of bone resorption are used in isolation to monitor the activity of cherubism in individuals because the results are based on a small number of children and because of reports of marked interindividual variation in the levels of these markers, particularly in children. (+info)A single technique to correct various degrees of upper lid retraction in patients with Graves' orbitopathy. (3/242)
BACKGROUND: Several lengthening techniques have been proposed for upper eyelid retraction in patients with Graves' orbitopathy and variable rates of success have been reported. Most authors recommend different procedures for different degrees of retraction, but cannot prevent residual temporal retraction in a significant number of cases. The modified levator aponeurosis recession described by Harvey and colleagues, in which the lateral horn is cut completely, seems to be an exception to this rule, but was evaluated in a limited number of cases only. METHOD: The authors further modified Harvey's technique by dissecting the aponeurosis together with Muller's muscle of the tarsus and the conjunctiva medially only to the extent necessary to achieve an acceptable position and contour of the eyelid in upright position. They also used an Ethilon 6.0 suture, instead of Vicryl, on a loop. It is placed between the tarsal plate and the detached aponeurosis to prevent spontaneous disinsertion. This modification was used in 50 Graves' patients (78 eyelids) with a upper lid margin-limbus distance ranging from 1 to 7 mm and evaluated using strict criteria. RESULTS: A perfect or acceptable result was obtained in 23 of 28 patients (82%) with bilateral retraction and in 18 of 22 patients (82%) with unilateral retraction. Seven eyelids were overcorrected (too low) and three undercorrected, necessitating reoperation. All other eyelids had an almond-like contour and a lid crease of 10 mm or less. No complications except subcutaneous haematomas were seen. Two patients showed a recurrence of lid retraction 9 months after the operation. CONCLUSION: This technique is safe and efficacious and can be used for all degrees of eyelid retraction. (+info)Temporomandibular joint ankylosis: the Egyptian experience. (4/242)
This is a review of 204 patients with temporomandibular joint (TMJ) ankylosis treated according to a definitive protocol in the Cranio-Maxillo-Facial Department of the Alexandria University Hospital during the period 1990-1996 with a follow-up varying from 1.5 to 7 years. A history of trauma was confirmed in 98% of cases. Patients were grouped into: (1) Those with ankylosis not associated with facial deformities. The management involves release of the ankylosed joint(s) and reconstruction of the condyle ramus unit(s) (CRUs) using costochondral graft(s) (CCGs). (2) Those with mandibular ankylosis complicated by facial bone deformities, either asymmetric or bird face. The treatment consists of release of the ankylosis, reconstruction of the CRUs, and correction of jaw deformities--all performed simultaneously. Respiratory embarrassment was an important presenting symptom in the second group, all of whom complained of night snoring, eight of whom had obstructive sleep apnoea (OSA). In this latter group, respiratory obstruction improved dramatically after surgical intervention. The degree of mouth opening, monitored as the interincisal distance (IID) improved from a range of 0-12 mm to over 30 mm in 62% of patients and to 20-30 mm in 29% of patients. However, reankylosis was still around 8% and was attributed to lack of patient compliance in 75% and to iatrogenic factors in 25% of patients. CCGs resorption, whether partial or complete, occurred in 27% of patients, resulting in retarded growth, relapse of deformities and night snoring. (+info)Prenatal sonographic diagnosis of Aarskog syndrome. (5/242)
In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder. (+info)X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. (6/242)
To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males included profound mental retardation (100%), mutism despite apparently normal hearing (100%), grand mal epilepsy (87.5%), and limited life expectancy (68.8%). Of the four affected males examined, all had mild craniofacial dysmorphology and three were noted to have bilateral ophthalmoplegia and truncal ataxia. Three of 10 obligate female carriers had mild mental retardation. Cerebellar and brain stem atrophy was shown by cranial imaging and postmortem examination. Linkage analysis shows the gene to be located between markers DXS424 (Xq24) and DXS548 (Xq27.3), with a maximum two point lod score of 3.10. (+info)Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH. (7/242)
A large number of cases with supernumerary marker chromosomes (SMCs) should be compared to achieve a better delineation of karyotype-phenotype correlations. Here we present four phenotypically abnormal patients with autosomal marker chromosomes analysed by fluorescence in situ hybridisation using centromeric, telomeric, and unique sequence probes, as well as forward and reverse painting. We also report the first case, to the best of our knowledge, of an SMC derived from chromosome 5. Furthermore, a marker chromosome 20 in a patient with sex differentiation abnormalities, a double mar(6) in a boy with psychomotor retardation, and the association of r(19) with dup(21q21.2q22.12) are described. Although the mar(6) was very small, the presence of euchromatin was shown, suggesting that the partial trisomy of pericentric region derived sequences is implicated in the aetiology of the abnormal phenotypes. (+info)A supernumerary marker chromosome originating from two different regions of chromosome 18. (8/242)
By random amplification of a microdissected chromosome using the degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) and forward painting (microFISH), we characterised an extra structurally abnormal chromosome (ESAC) or supernumerary marker chromosome in a mentally retarded girl with a pattern of dysmorphic features. It could be clearly shown that the small marker chromosome originates from two different regions of chromosome 18, 18p11.1-->18q11.1 and 18q12.3-->18q21.1 respectively. Maternal origin of the de novo ESAC and biparental origin of the normal homologues of chromosome 18 were shown by PCR of several highly polymorphic microsatellites. In this case, application of microFISH was a prerequisite for rapid and precise characterisation of an ESAC. A definite identification of this discontinuous supernumerary marker chromosome would not have been possible using FISH with centromere specific probes or multicolour FISH approaches. (+info)"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.
It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.
'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.
Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.
Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.
The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Micrognathism is a medical term that refers to a condition where the lower jaw (mandible) is abnormally small or underdeveloped. This can result in various dental and skeletal problems, including an improper bite (malocclusion), difficulty speaking, chewing, or swallowing, and sleep apnea. Micrognathism may be congenital or acquired later in life due to trauma, disease, or surgical removal of part of the jaw. Treatment options depend on the severity of the condition and can include orthodontic treatment, surgery, or a combination of both.
In medical terms, the face refers to the front part of the head that is distinguished by the presence of the eyes, nose, and mouth. It includes the bones of the skull (frontal bone, maxilla, zygoma, nasal bones, lacrimal bones, palatine bones, inferior nasal conchae, and mandible), muscles, nerves, blood vessels, skin, and other soft tissues. The face plays a crucial role in various functions such as breathing, eating, drinking, speaking, seeing, smelling, and expressing emotions. It also serves as an important identifier for individuals, allowing them to be recognized by others.
Muscle hypotonia, also known as decreased muscle tone, refers to a condition where the muscles appear to be flaccid or lacking in tension and stiffness. This results in reduced resistance to passive movements, making the limbs feel "floppy" or "like a rag doll." It can affect any muscle group in the body and can be caused by various medical conditions, including neurological disorders, genetic diseases, and injuries to the nervous system. Hypotonia should not be confused with muscle weakness, which refers to the inability to generate normal muscle strength.
Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.
Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.
Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.
It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.
Facial dermatoses refer to various skin conditions that affect the face. These can include a wide range of disorders, such as:
1. Acne vulgaris: A common skin condition characterized by the formation of comedones (blackheads and whiteheads) and inflammatory papules, pustules, and nodules. It primarily affects the face, neck, chest, and back.
2. Rosacea: A chronic skin condition that causes redness, flushing, and visible blood vessels on the face, along with bumps or pimples and sometimes eye irritation.
3. Seborrheic dermatitis: A common inflammatory skin disorder that causes a red, itchy, and flaky rash, often on the scalp, face, and eyebrows. It can also affect other oily areas of the body, like the sides of the nose and behind the ears.
4. Atopic dermatitis (eczema): A chronic inflammatory skin condition that causes red, itchy, and scaly patches on the skin. While it can occur anywhere on the body, it frequently affects the face, especially in infants and young children.
5. Psoriasis: An autoimmune disorder that results in thick, scaly, silvery, or red patches on the skin. It can affect any part of the body, including the face.
6. Contact dermatitis: A skin reaction caused by direct contact with an allergen or irritant, resulting in redness, itching, and inflammation. The face can be affected when allergens or irritants come into contact with the skin through cosmetics, skincare products, or other substances.
7. Lupus erythematosus: An autoimmune disorder that can cause a butterfly-shaped rash on the cheeks and nose, along with other symptoms like joint pain, fatigue, and photosensitivity.
8. Perioral dermatitis: A inflammatory skin condition that causes redness, small bumps, and dryness around the mouth, often mistaken for acne. It can also affect the skin around the nose and eyes.
9. Vitiligo: An autoimmune disorder that results in the loss of pigmentation in patches of skin, which can occur on the face and other parts of the body.
10. Tinea faciei: A fungal infection that affects the facial skin, causing red, scaly, or itchy patches. It is also known as ringworm of the face.
These are just a few examples of skin conditions that can affect the face. If you experience any unusual symptoms or changes in your skin, it's essential to consult a dermatologist for proper diagnosis and treatment.
Microcephaly is a medical condition where an individual has a smaller than average head size. The circumference of the head is significantly below the normal range for age and sex. This condition is typically caused by abnormal brain development, which can be due to genetic factors or environmental influences such as infections or exposure to harmful substances during pregnancy.
Microcephaly can be present at birth (congenital) or develop in the first few years of life. People with microcephaly often have intellectual disabilities, delayed development, and other neurological problems. However, the severity of these issues can vary widely, ranging from mild to severe. It is important to note that not all individuals with microcephaly will experience significant impairments or challenges.
Alagille syndrome is a genetic disorder that affects the liver, heart, and other parts of the body. It is also known as Arteriohepatic dysplasia or Alagille-Watson syndrome. The main features of this condition include:
1. Liver disease: Most individuals with Alagille syndrome have a liver disorder called bile duct paucity, which means that the small tubes (bile ducts) inside the liver that carry bile to the intestine are narrowed or missing. This can lead to liver scarring and damage over time.
2. Heart defects: About 90% of people with Alagille syndrome have a congenital heart defect, such as pulmonary stenosis (narrowing of the pulmonary valve) or tetralogy of Fallot (a combination of four heart defects).
3. Skeletal abnormalities: Many individuals with Alagille syndrome have distinctive facial features and skeletal changes, such as a broad forehead, wide-set eyes, a pointed chin, and butterfly-shaped vertebrae in the spine.
4. Eye problems: Approximately 90% of people with Alagille syndrome have eye abnormalities, including posterior embryotoxon (a narrowing of the drainage angle of the eye) or retinal changes.
5. Kidney issues: Up to 40% of individuals with Alagille syndrome may experience kidney problems, such as renal dysplasia (abnormal kidney development) or vesicoureteral reflux (backflow of urine from the bladder into the ureters).
6. Other features: Some people with Alagille syndrome may have growth delays, cognitive impairment, or hearing loss.
Alagille syndrome is caused by mutations in one of two genes: JAG1 or NOTCH2. These genes play crucial roles in embryonic development and tissue growth. Inheritance of Alagille syndrome is autosomal dominant, meaning that a person has a 50% chance of inheriting the condition if one parent carries the mutated gene. However, about 30-40% of cases result from new (de novo) mutations and have no family history of the disorder.
Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.
Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.
Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.
It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.
The eyebrows are a set of hairs that grow above the eyes on the forehead. They are an important feature of human facial anatomy, and play several roles in non-verbal communication and self-expression. Eyebrows help to prevent sweat and other moisture from dripping into the eyes, and also serve as a protective barrier against dirt, dust, and other foreign particles that might otherwise irritate or damage the eyes.
In addition, eyebrows play an important role in human social interaction and communication. They can convey a range of emotions and facial expressions, such as surprise, anger, fear, happiness, and sadness. Eyebrows can also help to frame the eyes and enhance their appearance, making them an important aspect of personal grooming and beauty.
The eyebrows are made up of several components, including hair follicles, sebaceous glands, and muscles that control their movement. The hairs themselves are composed of a protein called keratin, which also makes up the hair on the head, as well as nails and skin. The color and thickness of eyebrow hair can vary widely from person to person, and may be influenced by factors such as age, genetics, and hormonal changes.
In medical terms, changes in the appearance or condition of the eyebrows can sometimes be a sign of underlying health issues. For example, thinning or loss of eyebrows can be associated with conditions such as alopecia, thyroid disorders, or nutritional deficiencies. Changes in eyebrow shape or position can also be a symptom of certain neurological conditions, such as Bell's palsy or stroke. As such, any significant changes in the appearance or condition of the eyebrows should be evaluated by a healthcare professional to rule out any underlying medical causes.
Musculoskeletal abnormalities refer to structural and functional disorders that affect the musculoskeletal system, which includes the bones, muscles, cartilages, tendons, ligaments, joints, and other related tissues. These abnormalities can result from genetic factors, trauma, overuse, degenerative processes, infections, or tumors. They may cause pain, stiffness, limited mobility, deformity, weakness, and susceptibility to injuries. Examples of musculoskeletal abnormalities include osteoarthritis, rheumatoid arthritis, scoliosis, kyphosis, lordosis, fractures, dislocations, tendinitis, bursitis, myopathies, and various congenital conditions.
The facial bones, also known as the facial skeleton, are a series of bones that make up the framework of the face. They include:
1. Frontal bone: This bone forms the forehead and the upper part of the eye sockets.
2. Nasal bones: These two thin bones form the bridge of the nose.
3. Maxilla bones: These are the largest bones in the facial skeleton, forming the upper jaw, the bottom of the eye sockets, and the sides of the nose. They also contain the upper teeth.
4. Zygomatic bones (cheekbones): These bones form the cheekbones and the outer part of the eye sockets.
5. Palatine bones: These bones form the back part of the roof of the mouth, the side walls of the nasal cavity, and contribute to the formation of the eye socket.
6. Inferior nasal conchae: These are thin, curved bones that form the lateral walls of the nasal cavity and help to filter and humidify air as it passes through the nose.
7. Lacrimal bones: These are the smallest bones in the skull, located at the inner corner of the eye socket, and help to form the tear duct.
8. Mandible (lower jaw): This is the only bone in the facial skeleton that can move. It holds the lower teeth and forms the chin.
These bones work together to protect vital structures such as the eyes, brain, and nasal passages, while also providing attachment points for muscles that control chewing, expression, and other facial movements.
Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.
The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).
Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.
Growth disorders are medical conditions that affect a person's growth and development, leading to shorter or taller stature than expected for their age, sex, and ethnic group. These disorders can be caused by various factors, including genetic abnormalities, hormonal imbalances, chronic illnesses, malnutrition, and psychosocial issues.
There are two main types of growth disorders:
1. Short stature: This refers to a height that is significantly below average for a person's age, sex, and ethnic group. Short stature can be caused by various factors, including genetic conditions such as Turner syndrome or dwarfism, hormonal deficiencies, chronic illnesses, malnutrition, and psychosocial issues.
2. Tall stature: This refers to a height that is significantly above average for a person's age, sex, and ethnic group. Tall stature can be caused by various factors, including genetic conditions such as Marfan syndrome or Klinefelter syndrome, hormonal imbalances, and certain medical conditions like acromegaly.
Growth disorders can have significant impacts on a person's physical, emotional, and social well-being. Therefore, it is essential to diagnose and manage these conditions early to optimize growth and development and improve overall quality of life. Treatment options for growth disorders may include medication, nutrition therapy, surgery, or a combination of these approaches.
Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.
Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:
1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.
Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).
Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.
Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.
Congenital heart defects (CHDs) are structural abnormalities in the heart that are present at birth. They can affect any part of the heart's structure, including the walls of the heart, the valves inside the heart, and the major blood vessels that lead to and from the heart.
Congenital heart defects can range from mild to severe and can cause various symptoms depending on the type and severity of the defect. Some common symptoms of CHDs include cyanosis (a bluish tint to the skin, lips, and fingernails), shortness of breath, fatigue, poor feeding, and slow growth in infants and children.
There are many different types of congenital heart defects, including:
1. Septal defects: These are holes in the walls that separate the four chambers of the heart. The two most common septal defects are atrial septal defect (ASD) and ventricular septal defect (VSD).
2. Valve abnormalities: These include narrowed or leaky valves, which can affect blood flow through the heart.
3. Obstruction defects: These occur when blood flow is blocked or restricted due to narrowing or absence of a part of the heart's structure. Examples include pulmonary stenosis and coarctation of the aorta.
4. Cyanotic heart defects: These cause a lack of oxygen in the blood, leading to cyanosis. Examples include tetralogy of Fallot and transposition of the great arteries.
The causes of congenital heart defects are not fully understood, but genetic factors and environmental influences during pregnancy may play a role. Some CHDs can be detected before birth through prenatal testing, while others may not be diagnosed until after birth or later in childhood. Treatment for CHDs may include medication, surgery, or other interventions to improve blood flow and oxygenation of the body's tissues.
A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.
A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.
Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.
The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.
Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.
A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.
Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.
Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).
Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.
Facies
Cholestasis facies
Elfin facies
Leonine facies
Facies (medical)
Hutchinson's facies
Facies diaphragmatica
Dolgeville Facies
Hippocratic facies
Facies orbitalis
Facies anterior
Zeolite facies
Facies (disambiguation)
Mitral facies
Metamorphic facies
Asymmetric crying facies
Prehnite-pumpellyite facies
Hand and foot deformity with flat facies
Aortic arch anomaly - peculiar facies - intellectual disability
Facies of the pile dwellings and of the dammed settlements
Langobardisaurus
Triassic-Jurassic extinction event
Tubuliporina
Toarcian Oceanic Anoxic Event
Endolith
Vesteris Seamount
Plesiosaur
Fusulinida
Allkaruen
Bemaraha Formation
Facies - Wikipedia
Bohemian facies
Facies-suite Definition & Meaning - Merriam-Webster
Citing a Report in FACIES | Citation Machine
The syndrome of hypoparathyroidism, severe growth failure, developmental delay and distinctive facies
Seismic Facies Analysis for the Syn-kinematic Sequence of the Sinú Belt (Colombia)
Ichnology of Marginal Marine Facies of the Agrio Formation (Lower Cretaceous, Neuquén Basin, Argentina) at its Type Locality
Facies | Profiles RNS
Abstract: DETERMINING FACIES AND ELEMENTS OF PRODUCTIVITY IN GAS SHALE PLAYS: AN EXAMPLE FROM THE DEVONIAN CHATTANOOGA SHALE IN...
GeoText 1: Facies Models. Response to Sea Level Change | The Geological Association Of Canada | GAC®
Episodic fluid flow in an eclogite-facies shear zone: Insights from Li isotope zoning in garnet | Geology | GeoScienceWorld
Seismic Facies Analysis and Age Dating of Mid-Pleistocene Channel-Lobe Deposits, Mad Dog Field, Gulf of Mexico
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in...
Abstract: A Comparative Study of Facies and Diagenesis of Arabian Peninsula Sabkhas, by Jeremy Jameson, Christian J....
Carbonate Platform Facies and Faunas of the Middle and Upper Devonian Cedar Valley Group and Lime Creek Formation, Northern...
Late Cretaceous (Turonian-Coniacian) sequence stratigraphy, sea level, and deltaic facies, Magothy Formation, U. S. Middle...
OPUS Würzburg | Metamorphic evolution of ultrahigh-temperature granulite facies and upper amphibolite facies rocks of the Epupa...
Flow Zone Index for Improving Permeability and Porosity Relation and Facies Description | Earthdoc
Sedimentary facies characterization and depositional settings of the ajali sandstone, anambra basin, southeastern Nigeria |...
Caracterización de las facies de la transición canal-lóbulo en la secuencia Jata del Flysch Negro (Albiense Superior norte de...
Holocene lacustrine deposition in the Atacama Altiplano: Facies models, climate and tectonic forcing<...
西伯利亚克拉通南缘奥里洪地块麻粒相
Diagnostic Facies - Medchrome
Petrel facies modeling
AAPG Datapages/Archives: The North Sea Cycle: An Overview of 2nd-Order Transgressive/Regressive Facies Cycles in Western Europe
Genesis and mobility of the H2O-CO2 fluid phase during regional greenschist and epidote amphibolite facies metamorphism: a...
AAPG Datapages/Archives: Facies Reconstruction of a Late Pleistocene Cypress Forest Discovered on the Northern Gulf of Mexico...
Volcano Hazards Program Glossary | U.S. Geological Survey
Elfin3
- The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (umassmed.edu)
- Elfin facies 11. (medchrome.com)
- The Williams elfin facies syndrome: The psychological profile as an aid in syndrome identification. (bvsalud.org)
Metamorphic3
- Two distinct metamorphic units have been recognized, which are separated by ductile shear zones: (1) Upper amphibolite facies rocks (Orue Unit) and (2) ultrahigh-temperature (UHT) granulite facies rocks (Epembe Unit). (uni-wuerzburg.de)
- Greenschist-Facies metamorphic rocks. (cdc.gov)
- Metamorphic zircon from an Fe-Ti-rich eclogite in the carapace of the Kråkfjord complex dates the eclogite facies metamorphism at 421.9 ± 2.2 Ma, synchronous with the continental collision. (lu.se)
Seismic Facies Analysis1
- Integration of the seismic facies analysis with biostratigraphic ages was used to infer the prevalent geologic processes and thus the depositional history of the system. (searchanddiscovery.com)
Granulite facies metamorphism2
- All these rocks underwent UHT granulite facies metamorphism during the early Mesoproterozoic (1520-1447 Ma). (uni-wuerzburg.de)
- garnet-biotite gneiss in the OIkhon area indicate that both of them, experienced granulite facies metamorphism with peak conditions of 770 ∼800̈C, ∼l.OGPa. (edu.au)
Amphibolite facies metamorphism1
- During the Mesoproterozoic (1390-1318 Ma) the Orue Unit rocks underwent upper amphibolite facies metamorphism. (uni-wuerzburg.de)
Term facies1
- The term facies was introduced by the Swiss geologist Amanz Gressly in 1838 and was part of his significant contribution to the foundations of modern stratigraphy, which replaced the earlier notions of Neptunism. (wikipedia.org)
Eclogite-facies1
- The south-central WGR underwent regional eclogite facies metamorphism 415-400 Ma ago when Baltica subducted beneath Laurentia, during the Scandian orogeny. (lu.se)
Sedimentary facies9
- Ideally, a sedimentary facies is a distinctive rock unit that forms under certain conditions of sedimentation, reflecting a particular process or environment. (wikipedia.org)
- Sedimentary facies are either descriptive or interpretative. (wikipedia.org)
- Sedimentary facies are bodies of sediment that are recognizably distinct from adjacent sediments that resulted from different depositional environments. (wikipedia.org)
- Sedimentary facies reflect their depositional environment, each facies being a distinct kind of sediment for that area or environment. (wikipedia.org)
- Sedimentary facies are described in a group of "facies descriptors" which must be distinct, reproducible and exhaustive. (wikipedia.org)
- Sedimentary facies characterization was carried out on the Ajali Sandstone of southeastern Nigeria in order to deduce its depositional settings. (scholarsresearchlibrary.com)
- Bozzano, G. Middle slope contourite deposits and associated sedimentary facies off NE Argentina. (uba.ar)
- Cerredo, M.E. 'Middle slope contourite deposits and associated sedimentary facies off NE Argentina' (2011) Geo-Marine Letters. (uba.ar)
- In particular, studies based on core data providing detailed descriptions of sedimentary facies are lacking, as are investigations of principal sediment source areas and of key factors controlling sedimentary processes. (uba.ar)
Greenschist-facies3
- This may have occurred under approximately lower greenschist facies conditions as a result of mixing of fluids of varying f O 2 , initiated by thermal expansion of water during heating, decompression and consequent hydraulic fracturing. (geoscienceworld.org)
- A late retrograde infiltration of CO 2 ,-bearing hydrous fluid under lower greenschist facies conditions generated assemblages containing K-feldspar + chlorite + rutile ± dolomite in calcareous rocks and albite prophyroblast schists in zones of intense secondary deformation. (geoscienceworld.org)
- Large-scale infiltration of fluid into greenschist-facies metadolerite sills was intimately related to, and possibly controlled by, penetrative deformation and, in the absence of a penetrative deformation, grain-boundary diffusion by itself was an ineffectual mechanism of fluid transport. (geoscienceworld.org)
Depositional4
- The objective of this study was to identify and map seismic horizons that are continuous throughout the entire area in order to generate a chronostratigraphic framework for the syn-kinematic succession, and then to define seismic facies in the interpreted sequences that would help to understand the depositional environments, and therefore, to predict the distribution of reservoir, source and seal rocks. (aapg.org)
- We will discuss depositional environments, sequence stratigraphy, and discuss its famous assemblage of large fossil cephalopods and the implications for bottom water anoxia in the black shale facies. (stratigraphyhelp.com)
- These properties are controlled, not by depositional facies, but by diagenetic alteration of minor amounts of volcanic ash co-deposited with chalk. (utexas.edu)
- These sequences are described within the contourite depositional systems of Gulf of Cadiz with distribution patterns unique to each stage of the drift evolution.This research focuses on the cyclicity patterns of the contourite sediments, as expressed by their lithological facies{\textquoteright} changes. (hw.ac.uk)
Carbonate2
- Based on these controls, continental, coastal-carbonate and coastal-clastic sabkhas are recognized and have differing implications for facies, diagenesis and reservoir-quality distribution. (searchanddiscovery.com)
- In the epidote-amphibole facies (garnet zone), dehydration reactions in metabasites generated large quantities of water, which removed carbonate from metabasites on a regional scale and infiltrated calcareous metasediments to produce assemblages containing grossular, diopside, K-feldspar, amphibole, clinozoisite and sphene. (geoscienceworld.org)
Fractures1
- The park features beautiful waterfalls and gorges often controlled by the presence of catagenic fractures extending from deeper black shale facies up through overlying siltstone and shale of proximal Middle Devonian Strata. (stratigraphyhelp.com)
Shale7
- We are developing a regional three-dimensional facies model of the Devonian Chattanooga Shale in Alabama and Tennessee. (confex.com)
- This field trip compares the Marcellus Shale along a transect from distal, organic-rich condensed mudstone facies to proximal silty-shale facies. (stratigraphyhelp.com)
- This course also takes the time to focus on the grey shale facies of the overlying Hamilton Group. (stratigraphyhelp.com)
- Finally, we will look at horizontal and vertical permeability pathways in the form of pyritic lag deposits flooring and within black shale facies, and gas chimneys associated with hydrocarbon generation. (stratigraphyhelp.com)
- The afternoon will be spent visiting distal facies deposits of the Marcellus Shale. (stratigraphyhelp.com)
- In the afternoon will look at the Cherry Valley Limestone, and the fossiliferous Pecksport Shale, a relatively proximal facies of the Marcellus Shale. (stratigraphyhelp.com)
- In outcrop, we are afforded an opportunity to view a slightly more proximal facies of the deposits observed in the subsurface of the northeastern Pennsylvania Marcellus Shale gas fields. (stratigraphyhelp.com)
Leonine3
- Leonine facies 13. (medchrome.com)
- On physical examination, she had coarse 'leonine like' facies, with thickened skin of face and eyelids, her face had multiple nodular lesions that coalesced into plaques, especially on the forehead. (madridge.org)
- A, B) Leonine facies with waxy yellow papules. (cdc.gov)
Succession3
- Walther's law of facies, or simply Walther's law, named after the geologist Johannes Walther (1860-1937), states that the vertical succession of facies reflects lateral changes in environment. (wikipedia.org)
- calcareous Lower Devonian succession, the Bohemian facies, occurs in the Prague Basin of eastern Europe. (britannica.com)
- In this paper are described the coralgal facies identified in the Upper Eocene-Lower Oligocene limestone succession (Cozla Formation) outcropping in two quarries at Letca and Rastoci (Sălaj district, Romania). (usf.edu)
Metamorphism3
- The sequence of minerals that develop during progressive metamorphism (that is, metamorphism at progressively higher temperatures and/or pressures) define a facies series. (wikipedia.org)
- Peak-metamorphism was followed by retrograde cooling to middle amphibolite facies conditions. (uni-wuerzburg.de)
- Contact metamorphism, related with the intrusion of the anorthosites, is restricted to the direct contact to the KIC and recorded by massive metapelitic Grt-Sil-Crd felses, formed under upper amphibolite facies conditions (c. 750°C, c. 6.5 kbar). (uni-wuerzburg.de)
Deposits3
- In the syn-kinematic sequence of the Sinú Deformed Belt, seismic facies Cbh, Bh, Cbl, Bl and A were identified based on the methodology of Prather (1998), in addition to hemipelagic deposits corresponding to the slope wedge. (aapg.org)
- Fluctuating salinity and/or hypersalinity is inferred in the open tidal-flat deposits (facies 4). (bioone.org)
- The apparent continuous spectrum between the two end members involved, channel-fill and lobe deposits respectively, has left this facies asociation as the less well known in turbidite facies scheme. (uhu.es)
Diagenesis2
- Facies & Diagenesis, Austin Chalk & Controls on Fracture Intensity. (utexas.edu)
- Facies and Diagenesis of the Austin Chalk and Controls on Fracture Intensity--A Case Study from North-Central Texas, by S. D. Hovorka. (utexas.edu)
SYNDROME2
- In some instances, mask-like facies may be one of the features of a rare disease or genetic syndrome. (fdna.health)
- This photo shows characteristic moon facies in a patient with Cushing syndrome. (msdmanuals.com)
Petrological1
- citation needed] Facies based on petrological characters (such as grain size and mineralogy) are called lithofacies, whereas facies based on fossil content are called biofacies. (wikipedia.org)
Reservoir3
- The sequences TS1 (Lower Pleistocene) and TS2 (Middle Pleistocene) contain the main reservoir intervals (Cbh facies). (aapg.org)
- Mineralogical and geochemical data from outcrops and subsurface sources will be used to determine total organic carbon (TOC), maturity, and geochemical parameters to identify source rock locations and reservoir facies. (confex.com)
- This study presents a numerical investigation of geological discontinues in the coalbed using reservoir simulations of the effects of partings and permeability facies and lithotype changes on the production performances of vertical and horizontal degasi. (cdc.gov)
Channel-lobe1
- The detailed architectural and facies analysis of the fan system (a channel-lobe complex) was interpreted using 3D high-resolution seismic imaging and seismic attributes. (searchanddiscovery.com)
Sequence1
- The identified play in the syn-kinematic sequence in the Fuerte Sur block is characterized by stratigraphic traps, where Cbh facies pinch out of near the edges of the "piggy-back" basins of folds developed due to active compressional tectonics at the time of deposition. (aapg.org)
Formation3
- Diana Elizabeth Fernández and Pablo José Pazos "Ichnology of Marginal Marine Facies of the Agrio Formation (Lower Cretaceous, Neuquén Basin, Argentina) at its Type Locality," Ameghiniana 49(4), 505-524, (1 December 2012). (bioone.org)
- Twelve lithofacies identified from the formation were grouped into subtidal channel facies and subtidal sandwave facies based on association. (scholarsresearchlibrary.com)
- In the afternoon we will look at proximal, often fossil-bearing facies of the Stony Hollow Member of the Union Springs Formation. (stratigraphyhelp.com)
Holocene1
- This core revealed, from top to bottom, a surface of Holocene transgressive sands, underlain by interbedded sand and mud (potentially Holocene or Pleistocene), overlying a swamp or delta plain facies (likely Pleistocene) containing woody debris and mud that has been provisionally dated using radiocarbon to ca 41-45 ka. (datapages.com)
Cyclicity1
- This research focuses on the cyclicity patterns of the contourite sediments, as expressed by their lithological facies' changes. (hw.ac.uk)
Stratigraphic1
- Specifically, we will discuss the presence of pyritic beds, what they suggest about bottom water anoxia, and their stratigraphic relationships with organic-rich facies. (stratigraphyhelp.com)
Citation4
- A book citation in Facies always includes the author name(s), the publication year, the book title, and the publisher. (citationsy.com)
- How to reference a journal article in the Facies citation style? (citationsy.com)
- An example song citation in Facies. (citationsy.com)
- Laut Thomson Reuters Journal Citation Reports® 2016, ist der Impact Factor für Facies 1,690. (fau.eu)
Citing1
- If you've previously cited a video from a website in Facies, then the process for citing a video from YouTube is basically the same. (citationsy.com)
Outcrop1
- A reliable facies description of an outcrop in the field would include: composition, texture, sedimentary structure(s), bedding geometry, nature of bedding contact, fossil content and colour. (wikipedia.org)
Cite7
- How do you cite a book in the Facies referencing style? (citationsy.com)
- How do you cite scientific papers in Facies format? (citationsy.com)
- How to cite a website in a paper in Facies style? (citationsy.com)
- Cite Facies with Citationsy. (citationsy.com)
- So how to cite a video Facies? (citationsy.com)
- Cite podcasts in Facies with Citationsy, a referencing app used by over 400 000 students. (citationsy.com)
- How to cite a piece of music or a song using Facies referencing style? (citationsy.com)
Basin1
- Main provenance seems to come from the north, where some sequences were not deposited or eroded (TS1 and TS3), and where Cbh facies predominate and onlap in each mini basin. (aapg.org)
Diagnostic1
- These are pathognomic to certain disease and are called diagnostic facies. (medchrome.com)
Patterns1
- Sedimentary responses to physical processes like wind and marine circulation led to the development of a range of facies patterns observed in sabkhas. (searchanddiscovery.com)
MeSH1
- Facies" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
Composition1
- We assumed the smaller data groups would be more homogeneous than the whole data set as regards lithology and facies composition. (earthdoc.org)
WILLIAMS1
- Apariencia de la cara que, a menudo, es característica de una enfermedad o afección patológica, como la cara de elfo del SÍNDROME DE WILLIAMS o la facies mongoloide del SÍNDROME DE DOWN. (bvsalud.org)
Characteristics2
- A facies encompasses all of the characteristics of a rock including its chemical, physical, and biological features that distinguish it from adjacent rock. (wikipedia.org)
- Cores from Sites U1386 and U1387 were logged and sampled for their facies and mineralogical characteristics. (hw.ac.uk)
Analysis2
- The field data collected from the Triassic exposure on Selmanset, Bertilryggen and Ramfjelldalen, north of Isfjorden, during fieldwork in 2017 has been used for sedimentological facies analysis and identification of facies associations, in order to improve the understanding of the Lower Triassic Vardebukta, in the heavily tectonized area of Oscar II Land. (ntnu.no)
- 11 facies and 7 facies associations are interpreted based on the sedimentary analysis from the outcrops and the logs. (ntnu.no)
Weakness1
- Development of mask-like facies can be due to the weakness of facial muscles. (fdna.health)
Https1
- Merriam-Webster.com Dictionary , Merriam-Webster, https://www.merriam-webster.com/dictionary/facies-suite. (merriam-webster.com)
Middle2
- The Middle Paleolithic industry of the Sibiryachikha facies is described on the basis of two stratifi ed sites in the Altai - Okladnikov Cave (formerly Sibiryachikha) and Chagyrskaya Cave. (nsc.ru)
- The Sibiryachikha facies of the Altai Middle Paleolithic represented by two sites was clearly associated with a small group of Neanderthals who migrated from western Central Asia. (nsc.ru)
Chemistry1
- These results reveal that modern sabkhas vary in facies types, facies proportions, evaporite-mineral suite and water chemistry. (searchanddiscovery.com)