Craniofacial Dysostosis
Mandibulofacial Dysostosis
Craniofacial Abnormalities
Ribs
Facial Bones
Hypertrichosis
Ectromelia
Encyclopedias as Topic
Pelvic Bones
Greek World
Caroli Disease
Thalidomide
Craniofacial sutures: morphology, growth, and in vivo masticatory strains. (1/66)
The growth and morphology of craniofacial sutures are thought to reflect their functional environment. However, little is known about in vivo sutural mechanics. The present study investigates the strains experienced by the internasal, nasofrontal, and anterior interfrontal sutures during masticatory activity in 4-6-month-old miniature swine (Sus scrofa). Measurements of the bony/fibrous arrangements and growth rates of these sutures were then examined in the context of their mechanical environment. Large tensile strains were measured in the interfrontal suture (1,036 microepsilon +/- 400 SD), whereas the posterior internasal suture was under moderate compression (-440 microepsilon +/- 238) and the nasofrontal suture experienced large compression (-1,583 microepsilon +/- 506). Sutural interdigitation was associated with compressive strain. The collagen fibers of the internasal and interfrontal sutures were clearly arranged to resist compression and tension, respectively, whereas those of the nasofrontal suture could not be readily characterized as either compression or tension resisting. The average linear rate of growth over a 1-week period at the nasofrontal suture (133.8 micrometer, +/- 50.9 S.D) was significantly greater than that of both the internasal and interfrontal sutures (39.2 micrometer +/- 11.4 and 65. 5 micrometer +/- 14.0, respectively). Histological observations suggest that the nasofrontal suture contains chondroid tissue, which may explain the unexpected combination of high compressive loading and rapid growth in this suture. (+info)Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. (2/66)
Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles. A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. Two polymorphisms (1333TA/TATA and 2710 C/T) were found and were used with two previously described polymorphisms, to screen a total of 41 families. Twenty-two of these families were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome). Eleven different mutations in the 22 families were detected by either restriction digest or allele-specific oligonucleotide hybridization of ARMS PCR products. We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P=2. 4x10-7; 95% confidence limits 87%-100%). Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34. 50+/-7.65 years vs. 30.45+/-1.28 years, P<.01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations. (+info)Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. (3/66)
Fibroblast growth factors (FGF) play a critical role in bone growth and development affecting both chondrogenesis and osteogenesis. During the process of intramembranous ossification, which leads to the formation of the flat bones of the skull, unregulated FGF signaling can produce premature suture closure or craniosynostosis and other craniofacial deformities. Indeed, many human craniosynostosis disorders have been linked to activating mutations in FGF receptors (FGFR) 1 and 2, but the precise effects of FGF on the proliferation, maturation and differentiation of the target osteoblastic cells are still unclear. In this report, we studied the effects of FGF treatment on primary murine calvarial osteoblast, and on OB1, a newly established osteoblastic cell line. We show that FGF signaling has a dual effect on osteoblast proliferation and differentiation. FGFs activate the endogenous FGFRs leading to the formation of a Grb2/FRS2/Shp2 complex and activation of MAP kinase. However, immature osteoblasts respond to FGF treatment with increased proliferation, whereas in differentiating cells FGF does not induce DNA synthesis but causes apoptosis. When either primary or OB1 osteoblasts are induced to differentiate, FGF signaling inhibits expression of alkaline phosphatase, and blocks mineralization. To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells. Both mutations inhibited differentiation, while dramatically inducing apoptosis. Furthermore, we could also show that overexpression of FGF2 in transgenic mice leads to increased apoptosis in their calvaria. These data provide the first biochemical analysis of FGF signaling in osteoblasts, and show that FGF can act as a cell death inducer with distinct effects in proliferating and differentiating osteoblasts. (+info)New surgical concepts resulting from cranio-orbito-facial surgery. (4/66)
The authors have defined the subspecialty of craniofacial surgery and described the organization of the multi-disciplinary team required to care for such patients. Common features of the craniofacial patient have been summarized and three major categories of patients have been proposed. These are: I. Syndromes associated with hypertelorism; II. Syndromes associated with premature synostoses or growth arrests; III. Syndromes associated with primarily mid- and lower face anomalies. Growing out of an experience with 242 operations on 106 patients, the authors have listed 9 relatively new surgical "principles." Each has led to a current surgical approach that is now being employed by the craniofacial team at The University of Virginia. A number of examples are given to show ways in which the lessons learned from the craniofacial patients are now being applied, with improved results, to patients with neoplasms, traumatic injuries, or other conditions. (+info)Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. (5/66)
BACKGROUND AND PURPOSE: Jugular foraminal stenosis (JFS) or atresia (JFA) with collateral emissary veins (EV) has been documented in syndromic craniosynostosis. Disruption of EV during surgery can produce massive hemorrhage. Our purpose was to describe the prevalence of prominent basal emissary foramina (EF), which transmit enlarged EV, in syndromic craniosynostosis. Our findings were correlated with phenotypic and molecular diagnoses. METHODS: We reviewed the medical records and imaging examinations of 33 patients with syndromic craniosynostosis and known fibroblast growth factor receptor (FGFR) mutations. All patients underwent CT and 14 MR imaging. The cranial base was assessed for size of occipitomastoid EF and jugular foramina (JF). Vascular imaging studies were available from 12 patients. A control group (n = 76) was used to establish normal size criteria for JF and EF. RESULTS: Phenotypic classification included Crouzon syndrome (n = 10), crouzonoid features with acanthosis nigricans (n = 3), Apert syndrome (n = 10), Pfeiffer syndrome (n = 4), and clinically unclassifiable bilateral coronal synostosis (n = 6). EF > or = 3 mm in diameter and JFS or JFA were identified in 23 patients with various molecular diagnoses. Vascular imaging in patients with JFS or JFA and enlarged EF revealed atresia or stenosis of the jugular veins and enlarged basal EV. JFA was seen in all patients with the FGFR3 mutation with crouzonoid features and acanthosis nigricans. Four patients had prominent EF without JFS. Six patients had normal JF and lacked enlarged EF. CONCLUSION: Enlarged basal EF are common in syndromic craniosynostosis and are usually associated with JFS or JFA. Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and crouzonoid features with acanthosis nigricans, but may be found in patients with FGFR2 mutations. Skull base vascular imaging should be obtained in patients with syndromic craniosynostosis with enlarged EF. (+info)Role of the extracellular matrix and growth factors in skull morphogenesis and in the pathogenesis of craniosynostosis. (6/66)
The complex and largely obscure regulatory processes that underlie ossification and fusion of the sutures during skull morphogenesis are dependent on the conditions of the extracellular microenvironment. The concept that growth factors are involved in the pathophysiology of craniosynostosis due to premature fusion of skull bone sutures, is supported by recent genetic data. Crouzon and Apert syndromes, for example, are characterized by point mutations in the extracellular or transmembrane domains of fibroblast growth factor-2 receptor. In primary cultures of periosteal fibroblasts and osteoblasts obtained from Apert and Crouzon patients, we observed that Crouzon and Apert cells behaved differently with respect to normal cells as regards the expression of cytokines and extracellular matrix (ECM) macromolecule accumulation. Further modulation of ECM components observed after the addition of cytokines provides support for an autocrine involvement of these cytokines in Crouzon and Apert phenotype. Changes in ECM composition could explain the altered osteogenic process and account for pathological variations in cranial development. We suggest that a correlation exists between in vitro phenotype, clinical features and genotype in the two craniosynostotic syndromes. New research into signal transduction pathways should establish further connections between the mutated genotype and the molecular biology of the cellular phenotype. (+info)The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report. (7/66)
A case of Binder syndrome was diagnosed at 21 weeks of gestation using two-dimensional and three-dimensional ultrasound. The first indication of any abnormality was a flattened fetal nose demonstrated in the mid-sagittal plane. Further ultrasound imaging showed the virtual absence of the naso-frontal angle, giving the impression of a flat forehead and small fetal nose. Suspected mild hypertelorism was also seen using transverse and coronal planes. Differential diagnosis of this condition is discussed. (+info)Stenosis of the cervical canal in craniodiaphyseal dysplasia. (8/66)
Craniodiaphyseal dysplasia (CDD) is a rare sclerosing bone disorder, the severity of which depends on its phenotypic expression. Hyperostosis can cause progressive foraminal stenosis leading to palsy of cranial nerves, epilepsy and mental retardation. We report the only case of CDD in an adult, with stenosis of the cervical canal leading to quadriparesis as a late complication of hyperostosis, and describe the problems associated with its treatment. Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders. (+info)Craniofacial dysostosis is a term used to describe a group of rare genetic disorders that affect the development of the skull and face. These conditions are characterized by cranial and facial abnormalities, including a misshapen head, wide-set eyes, a beaked nose, and underdeveloped jaws.
The most common type of craniofacial dysostosis is Crouzon syndrome, which is caused by mutations in the FGFR2 gene. Other types include Apert syndrome (caused by mutations in the FGFR2 or FGFR3 gene), Pfeiffer syndrome (caused by mutations in the FGFR1 or FGFR2 gene), and Saethre-Chotzen syndrome (caused by mutations in the TWIST1 gene).
These conditions can vary in severity, but they often cause complications such as breathing difficulties, vision problems, hearing loss, and developmental delays. Treatment typically involves a team of specialists, including craniofacial surgeons, orthodontists, ophthalmologists, and audiologists, and may include surgery to correct the structural abnormalities and improve function.
Dysostosis is a term used to describe a group of genetic disorders that are characterized by abnormal development and formation of one or more bones in the body. The condition is typically present at birth (congenital) and can affect any bone, but it most commonly involves the bones of the skull, face, hands, and feet.
The term "dysostosis" comes from the Greek words "dys," meaning difficult or abnormal, and "osteon," meaning bone. Dysostoses are usually caused by mutations in specific genes that regulate bone development. These genetic changes can be inherited from one or both parents or can occur spontaneously during fetal development.
There are many different types of dysostoses, each with its own set of symptoms and characteristics. Some common examples include:
1. Cleidocranial Dysplasia: This is a rare genetic disorder that affects the development of the skull and collarbones (cleido). People with cleidocranial dysplasia may have a larger than normal head, wide-set eyes, a prominent forehead, and underdeveloped or missing collarbones.
2. Acrocephalopolysyndactyly Type II: Also known as ACPS II or Greig cephalopolysyndactyly syndrome, this disorder is characterized by a pointed skull (acrocephaly), extra fingers and toes (polydactyly), and wide-set eyes.
3. Osteogenesis Imperfecta: This is a group of genetic disorders that affect the body's production of collagen, a protein that helps to strengthen bones. People with osteogenesis imperfecta have fragile bones that break easily, often as a result of minor trauma.
4. Diastrophic Dysplasia: This is a rare genetic disorder that affects the development of the bones and cartilage in the body. People with diastrophic dysplasia may have short limbs, a deformed spine, and a characteristic "hitchhiker's thumb" appearance.
5. Thanatophoric Dysplasia: This is a severe genetic disorder that affects the development of the bones in the body. People with thanatophoric dysplasia have very short limbs, a small chest, and a deformed skull. The condition is often fatal in infancy or early childhood.
These are just a few examples of the many different types of skeletal dysplasias that exist. While some forms of these disorders can be managed with medical treatment and therapy, others may require surgery or other interventions to help improve quality of life. In some cases, genetic counseling and testing may be recommended for individuals who are considering starting a family and have a history of skeletal dysplasia in their family.
Mandibulofacial dysostosis is a genetic disorder that affects the development of the face and jaw. It is characterized by underdevelopment of the lower jaw (mandible) and facial bones, which can result in distinctive facial features such as a small chin, cleft palate, hearing loss, and dental abnormalities. This condition is often associated with other health issues, including respiratory problems and developmental delays. Mandibulofacial dysostosis is typically inherited in an autosomal dominant pattern, which means that only one copy of the altered gene is necessary to cause the disorder. It can also occur spontaneously due to a new genetic mutation. The specific symptoms and severity of mandibulofacial dysostosis can vary widely from person to person.
Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.
Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).
Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.
In medical terms, ribs are the long, curved bones that make up the ribcage in the human body. They articulate with the thoracic vertebrae posteriorly and connect to the sternum anteriorly via costal cartilages. There are 12 pairs of ribs in total, and they play a crucial role in protecting the lungs and heart, allowing room for expansion and contraction during breathing. Ribs also provide attachment points for various muscles involved in respiration and posture.
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.
Hypertrichosis is a medical term that refers to an abnormal growth or overabundance of hair in areas where hair is not typically found or excessively thick. It can affect both men and women, and it can be present at birth (congenital) or develop later in life (acquired). The cause of congenital hypertrichosis is usually genetic, while acquired hypertrichosis can be caused by various factors such as medications, hormonal imbalances, metabolic disorders, or cancer.
Hypertrichosis should not be confused with hirsutism, which is a condition that causes excessive hair growth in women in areas where hair is typically found in men, such as the face, chest, and back. Hirsutism is usually caused by hormonal imbalances, while hypertrichosis can occur anywhere on the body.
Hypertrichosis can be localized, affecting only specific areas of the body, or generalized, affecting large portions of the body. Treatment for hypertrichosis depends on the underlying cause and may include medications to slow hair growth, laser therapy, or hair removal methods such as waxing, shaving, or plucking.
Ectromelia is a medical term that refers to the congenital absence or malformation of a limb or extremity. It is also known as "congenital amputation" or "limb reduction defect." This condition can affect any extremity, including arms, legs, hands, or feet, and can range from mild, such as a missing finger or toe, to severe, such as the absence of an entire limb.
Ectromelia can be caused by various factors, including genetic mutations, environmental factors, or a combination of both. In some cases, the cause may be unknown. Treatment options for ectromelia depend on the severity and location of the malformation and may include prosthetics, physical therapy, or surgery.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
The pelvic bones, also known as the hip bones, are a set of three irregularly shaped bones that connect to form the pelvic girdle in the lower part of the human body. They play a crucial role in supporting the spine and protecting the abdominal and pelvic organs.
The pelvic bones consist of three bones:
1. The ilium: This is the largest and uppermost bone, forming the majority of the hip bone and the broad, flaring part of the pelvis known as the wing of the ilium or the iliac crest, which can be felt on the side of the body.
2. The ischium: This is the lower and back portion of the pelvic bone that forms part of the sitting surface or the "sit bones."
3. The pubis: This is the front part of the pelvic bone, which connects to the other side at the pubic symphysis in the midline of the body.
The pelvic bones are joined together at the acetabulum, a cup-shaped socket that forms the hip joint and articulates with the head of the femur (thigh bone). The pelvic bones also have several openings for the passage of blood vessels, nerves, and reproductive and excretory organs.
The shape and size of the pelvic bones differ between males and females due to their different roles in childbirth and locomotion. Females typically have a wider and shallower pelvis than males to accommodate childbirth, while males usually have a narrower and deeper pelvis that is better suited for weight-bearing and movement.
I believe there may be some confusion in your question as "Greek World" is not a medical term. If you are referring to the ancient Greek civilization, it was a significant period in human history that greatly contributed to the development of various fields including medicine. The ancient Greeks, particularly Hippocrates and his followers, are often referred to as the "Fathers of Medicine." They made substantial contributions to the field through their observations, theories, and practices which formed the foundation of much of Western medical thought. However, "Greek World" itself does not have a medical definition.
Caroli disease is a rare genetic disorder that affects the liver and bile ducts. It is characterized by abnormal dilations or sac-like structures in the intrahepatic bile ducts, which are the ducts that carry bile from the liver to the gallbladder and small intestine. These dilations can lead to recurrent cholangitis (inflammation of the bile ducts), stone formation, and liver damage.
Caroli disease is usually diagnosed in childhood or early adulthood, and it can be associated with other congenital anomalies such as polycystic kidney disease. The exact cause of Caroli disease is not fully understood, but it is believed to be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the abnormal gene, one from each parent, to develop the condition.
Treatment for Caroli disease may include antibiotics to manage cholangitis, endoscopic procedures to remove stones or dilate strictures, and surgery to bypass or remove affected bile ducts. In severe cases, liver transplantation may be necessary. Regular monitoring of liver function and surveillance for complications are essential in the management of this condition.
Thalidomide is a pharmaceutical drug that was initially developed and marketed as a sedative and treatment for morning sickness in pregnant women. However, it was later found to cause severe birth defects when given during pregnancy, particularly damage to the limbs, ears, and eyes of the developing fetus. As a result, thalidomide was banned in many countries in the 1960s.
In recent years, thalidomide has been reintroduced as a treatment for certain medical conditions, including multiple myeloma (a type of cancer that affects plasma cells) and leprosy. It is also being studied as a potential treatment for other diseases, such as rheumatoid arthritis and Crohn's disease.
Thalidomide works by suppressing the immune system and inhibiting the formation of new blood vessels (angiogenesis). However, its use is tightly regulated due to its teratogenic effects, meaning it can cause birth defects if taken during pregnancy. Women who are pregnant or planning to become pregnant should not take thalidomide, and healthcare providers must follow strict guidelines when prescribing the drug to ensure that it is used safely and effectively.
Genetic research is a branch of biomedical science that involves the study of genes, their functions, and heredity. It aims to understand how genetic variations contribute to human health and disease by using various scientific approaches such as genetics, genomics, molecular biology, biochemistry, and bioinformatics.
Genetic research can be conducted on humans, animals, or plants, and it can focus on a variety of areas including:
1. Identifying genes associated with specific diseases or traits
2. Understanding how genes are regulated and expressed
3. Investigating the role of genetic mutations in disease development
4. Developing new diagnostic tests and treatments based on genetic information
5. Exploring evolutionary relationships between species
6. Examining ethical, legal, and social implications of genetic research.
Genetic research has led to significant advances in our understanding of many diseases, including cancer, diabetes, heart disease, and neurological disorders. It also holds great promise for personalized medicine, which tailors treatments to individual patients based on their genetic makeup.