The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
The condition of carrying TWINS simultaneously.
Partial or total surgical excision of the tongue. (Dorland, 28th ed)
A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abdominal distention.
A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
Disorders affecting TWINS, one or both, at any age.
A family of GLYCOSYLPHOSPHATIDYLINOSITOL-anchored, cell-surface heparan sulfate proteoglycans that may play a role in CELL GROWTH PROCESSES and CELL DIFFERENTIATION by modulating ligand-receptor interactions.
The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.
Ubiquitous macromolecules associated with the cell surface and extracellular matrix of a wide range of cells of vertebrate and invertebrate tissues. They are essential cofactors in cell-matrix adhesion processes, in cell-cell recognition systems, and in receptor-growth factor interactions. (From Cancer Metastasis Rev 1996; 15(2): 177-86; Hepatology 1996; 24(3): 524-32)
A characteristic symptom complex.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.

Anesthetic considerations of two sisters with Beckwith-Wiedemann syndrome. (1/25)

Anesthetic considerations of 21-mo-old and 4-yr-old sisters with Beckwith-Wiedemann syndrome during surgical repair of cleft palate and reduction of macroglossia are presented and discussed. This syndrome is characterized by exomphalos, macroglossia, gigantism, hypoglycemia in infancy, and many other clinical features. This syndrome is also known as exomphalos, macroglossia, and gigantism (EMG) syndrome. Principal problems associated with anesthetic management in this syndrome are hypoglycemia and macroglossia. Careful intraoperative plasma glucose monitoring is particularly important to prevent the neurologic sequelae of unrecognized hypoglycemia. It is expected that airway management would be complicated by the macroglossia, which might cause difficult bag/mask ventilation and endotracheal intubation following the induction of anesthesia and muscle paralysis, so preparations for airway difficulty (e.g., awake vocal cord inspection) should be considered before induction. A nasopharyngeal airway is useful in relieving postoperative airway obstruction.  (+info)

Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis. (2/25)

Gelsolin-related amyloidosis (AGel amyloidosis) is a rare autosomal dominant disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene mutation. The main clinical signs are cutis laxa, cranial and peripheral neuropathy, and corneal lattice dystrophy but heavy intermittent snoring also occurs. To evaluate whether sleep apnoea is present we performed nocturnal sleep recordings, cephalometric and spirometric analyses and multiple sleep latency tests (MSLT) in five snoring patients with a G654A gelsolin gene mutation. Four patients had obstructive sleep apnoea syndrome (OSAS) with redundant oropharyngeal and hypopharyngeal soft tissues, macroglossia and cranial neuromuscular dysfunction. The fifth patient had hypersomnia without obstructive sleep apnoea. Nasal continuous positive airway pressure (CPAP) was an effective treatment. This study presents the first evidence in favour of an association between AGel amyloidosis and OSAS, but further studies are needed to define the prevalence of OSAS and the pathogenetic roles of amyloid and variant gelsolin in its evolution.  (+info)

Improvement of amyloid-related symptoms after autologous stem cell transplantation in a patient with hepatomegaly, macroglossia and purpura. (3/25)

AL amyloidosis was diagnosed in a 56-year-old woman with spontaneous purpura, macroglossia and hepatomegaly, a serum IgGk monoclonal gammopathy and a 25% plasma cell bone marrow infiltration. She was started on high-dose treatment consisting of four monthly cycles of VID chemotherapy, then underwent a stem cell collection after priming with cyclophosphamide + G-CSF. Myeloablative therapy was with melphalan and busulfan. Hematologic recovery was fast and uncomplicated. At follow-up 22 months from ASCT, the patient shows a complete remission of the clonal plasma cell disorder, normalization of liver size and alkaline phosphatase level and a significant improvement in the signs of vascular and soft tissue amyloid infiltration.  (+info)

Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. (4/25)

Neonatal diabetes, which can be transient or permanent, is defined as hyperglycemia that presents within the first month of life and requires insulin therapy. Transient neonatal diabetes mellitus has been associated with abnormalities of the paternally inherited copy of chromosome 6, including duplications of a portion of the long arm of chromosome 6 and uniparental disomy, implicating overexpression of an imprinted gene in this disorder. To date, all patients with transient neonatal diabetes mellitus and uniparental disomy have had complete paternal isodisomy. We describe a patient with neonatal diabetes, macroglossia, and craniofacial abnormalities, with partial paternal uniparental disomy of chromosome 6 involving the distal portion of 6q, from 6q24-qter. This observation demonstrates that mitotic recombination of chromosome 6 can also give rise to uniparental disomy and neonatal diabetes, a situation similar to that observed in Beckwith-Wiedemann syndrome, another imprinted disorder. This finding has clinical implications, since somatic mosaicism for uniparental disomy of chromosome 6 should also be considered in patients with transient neonatal diabetes mellitus.  (+info)

Symptomatic macroglossia and tongue myositis in polymyositis: treatment with corticosteroids and intravenous immunoglobulin. (5/25)

Symptomatic macroglossia occurs in some rare congenital muscle diseases, such as Becker's and Duchenne's dystrophies or Pompe's disease. Herein we describe a case of symptomatic macroglossia with myositis of the tongue occurring in a patient with polymyositis. Tongue myositis was evidenced by dysarthria, frequent biting during mastication, swallowing difficulties without aspiration, and noisy breathing. Magnetic resonance imaging showed homogeneous hypertrophy of the tongue, especially the mouth's floor muscles. The diagnosis of tongue myositis was established by electromyography and biopsy. No other cause for the macroglossia was found. Symptoms resolved quickly with corticosteroid and intravenous immunoglobulin treatment. To our knowledge, this is the first reported case of symptomatic tongue myositis occurring in the course of polymyositis.  (+info)

Peeping through heart's window: a case report of Fallots tetralogy. (6/25)

Tetralogy of Fallot is a congenital heart defect. A combination of four abnormalities in heart allow oxygen rich and oxygen-depleted blood to mix. The resulting low-oxygen blood then circulates through the body. A child with the condition tends to develop slowly, eat poorly and grow slowly and may experience "blue" spells on crying and dyspnea on exertion. A 12 year old child with this congenital heart defect and cleft palate with cleft lip is discussed. Details of the latest diagnostic and treatment procedures are also presented.  (+info)

Oral lymphangioma: a case report. (7/25)

Lymphangiomas are congenital malformations of lymphatic vessels filled with a clear protein-rich fluid containing few lymph cells. It can also occur in association with hemangioma. Large lymphangioma extending into the tissue spaces of neck is referred to as cystic hygroma. Herewith, we present a case of cystic hygroma associated with lymphangioma of tongue leading to macroglossia in a 5-year-old boy.  (+info)

Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features. (8/25)

The relationships between biochemical severity of hypothyroidism (as judged by plasma thyroxine) and the clinical and radiographic findings at diagnosis were evaluated in 449 infants born in 1982-4 with congenital hypothyroidism identified by neonatal screening. Details of pregnancy, delivery, and the neonatal period were also examined and compared with the findings in a normal population of 36,727 infants born in 1988. Infants with plasma thyroxine values of 30 nmol/l or less had a significantly higher incidence of prolonged jaundice, feeding difficulties, lethargy, umbilical hernia and macroglossia, showed more severe delay of bone maturation on a knee radiograph, and had a higher proportion of thyroid agenesis on isotope scan. In contrast, an ectopic or hypoplastic gland was more common in infants with plasma thyroxine values above 30 nmol/l. Prevalence of illness in pregnancy and mode of delivery was not related to severity of hypothyroidism and were similar to figures for the normal population. Induction of labour, gestation over 40 weeks, and birth weight above 3500 g were significantly more common in the hypothyroid infants. Perinatal illness and congenital malformations were more common in the infants with low plasma thyroxine values at diagnosis.  (+info)

Macroglossia is a medical term that refers to an abnormally large tongue in relation to the size of the oral cavity. It can result from various conditions, including certain genetic disorders (such as Down syndrome and Beckwith-Wiedemann syndrome), hormonal disorders (such as acromegaly), inflammatory diseases (such as amyloidosis), tumors or growths on the tongue, or neurological conditions. Macroglossia can cause difficulties with speaking, swallowing, and breathing, particularly during sleep. Treatment depends on the underlying cause but may include corticosteroids, radiation therapy, surgery, or a combination of these approaches.

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder that affects several parts of the body. It is characterized by an increased risk of developing certain tumors, especially during the first few years of life. The symptoms and features of BWS can vary widely among affected individuals.

The medical definition of Beckwith-Wiedemann syndrome includes the following major criteria:

1. Excessive growth before birth (macrosomia) or in infancy (infantile gigantism)
2. Enlargement of the tongue (macroglossia)
3. Abdominal wall defects, such as an omphalocele (protrusion of abdominal organs through the belly button) or a diastasis recti (separation of the abdominal muscles)
4. Enlargement of specific internal organs, like the kidneys, liver, or pancreas
5. A distinctive facial appearance, which may include ear creases or pits, wide-set eyes, and a prominent jaw

Additional findings in BWS can include:

1. Increased risk of developing embryonal tumors, such as Wilms tumor (a type of kidney cancer), hepatoblastoma (a liver cancer), and neuroblastoma (a nerve tissue cancer)
2. Hypoglycemia (low blood sugar) in infancy due to hyperinsulinism (overproduction of insulin)
3. Asymmetric growth, where one side of the body or a specific region is significantly larger than the other
4. Ear abnormalities, such as cupped ears or low-set ears
5. Developmental delays and learning disabilities in some cases

Beckwith-Wiedemann syndrome is caused by changes in the chromosome 11p15 region, which contains several genes that regulate growth and development. The most common cause of BWS is an epigenetic abnormality called paternal uniparental disomy (UPD), where both copies of this region come from the father instead of one copy from each parent. Other genetic mechanisms, such as mutations in specific genes or imprinting center defects, can also lead to BWS.

The diagnosis of Beckwith-Wiedemann syndrome is typically based on clinical findings and confirmed by molecular testing. Management includes regular monitoring for tumor development, controlling hypoglycemia, and addressing any other complications as needed. Surgical intervention may be required in cases of organ enlargement or structural abnormalities. Genetic counseling is recommended for affected individuals and their families to discuss the risks of recurrence and available reproductive options.

Twin pregnancy refers to a type of multiple pregnancy where a woman is carrying two fetuses simultaneously. There are two types of twin pregnancies: monozygotic (identical) and dizygotic (fraternal). Monoygotic twins occur when a single fertilized egg (zygote) splits and develops into two separate embryos, resulting in identical twins who share the same genetic material. Dizygotic twins, on the other hand, result from the fertilization of two separate eggs by two different sperm cells, leading to non-identical twins who have their own unique genetic material.

Twin pregnancies are associated with higher risks of complications compared to singleton pregnancies, including preterm labor, low birth weight, gestational diabetes, and preeclampsia. Close monitoring by healthcare providers is essential to ensure the best possible outcomes for both the mother and the twins.

Glossectomy is a surgical procedure that involves the partial or total removal of the tongue. This type of surgery may be performed for various reasons, such as treating certain types of cancer (like oral or tongue cancer) that have not responded to other forms of treatment, or removing a portion of the tongue that's severely damaged or injured due to trauma.

The extent of the glossectomy depends on the size and location of the tumor or lesion. A partial glossectomy refers to the removal of a part of the tongue, while a total glossectomy involves the complete excision of the tongue. In some cases, reconstructive surgery may be performed to help restore speech and swallowing functions after the procedure.

It is essential to note that a glossectomy can significantly impact a patient's quality of life, as the tongue plays crucial roles in speaking, swallowing, and taste sensation. Therefore, multidisciplinary care involving speech therapists, dietitians, and other healthcare professionals is often necessary to help patients adapt to their new conditions and optimize their recovery process.

An umbilical hernia is a type of hernia that occurs at the umbilicus, or belly button. It results from a protrusion of abdominal contents through a weakened area in the abdominal wall surrounding the navel. This condition is common in newborns and infants, especially premature babies, due to incomplete closure of the abdominal muscles during development.

In most cases, umbilical hernias in children close on their own by age 3-4 or by the time they reach school age. However, if the hernia is still present after this age, surgical intervention may be required to prevent potential complications such as incarceration (where the herniated tissue becomes trapped and cannot be pushed back in) or strangulation (where the blood supply to the herniated tissue is cut off, leading to tissue death).

Adults can also develop umbilical hernias, often as a result of increased pressure in the abdomen due to obesity, pregnancy, heavy lifting, or persistent coughing. Umbilical hernias in adults are generally more likely to require surgical repair due to the higher risk of complications.

Amyloidosis is a medical condition characterized by the abnormal accumulation of insoluble proteins called amyloid in various tissues and organs throughout the body. These misfolded protein deposits can disrupt the normal function of affected organs, leading to a range of symptoms depending on the location and extent of the amyloid deposition.

There are different types of amyloidosis, classified based on the specific proteins involved:

1. Primary (AL) Amyloidosis: This is the most common form, accounting for around 80% of cases. It results from the overproduction and misfolding of immunoglobulin light chains, typically by clonal plasma cells in the bone marrow. The amyloid deposits can affect various organs, including the heart, kidneys, liver, and nervous system.
2. Secondary (AA) Amyloidosis: This form is associated with chronic inflammatory diseases, such as rheumatoid arthritis, tuberculosis, or familial Mediterranean fever. The amyloid fibrils are composed of serum amyloid A protein (SAA), an acute-phase reactant produced during the inflammatory response. The kidneys are commonly affected in this type of amyloidosis.
3. Hereditary or Familial Amyloidosis: These forms are caused by genetic mutations that result in the production of abnormal proteins prone to misfolding and amyloid formation. Examples include transthyretin (TTR) amyloidosis, fibrinogen amyloidosis, and apolipoprotein AI amyloidosis. These forms can affect various organs, including the heart, nerves, and kidneys.
4. Dialysis-Related Amyloidosis: This form is seen in patients undergoing long-term dialysis for chronic kidney disease. The amyloid fibrils are composed of beta-2 microglobulin, a protein that accumulates due to impaired clearance during dialysis. The joints and bones are commonly affected in this type of amyloidosis.

The diagnosis of amyloidosis typically involves a combination of clinical evaluation, imaging studies, and tissue biopsy with the demonstration of amyloid deposition using special stains (e.g., Congo red). Treatment depends on the specific type and extent of organ involvement and may include supportive care, medications to target the underlying cause (e.g., chemotherapy, immunomodulatory agents), and organ transplantation in some cases.

'Diseases in Twins' is a field of study that focuses on the similarities and differences in the occurrence, development, and outcomes of diseases among twins. This research can provide valuable insights into the genetic and environmental factors that contribute to various medical conditions.

Twins can be classified into two types: monozygotic (identical) and dizygotic (fraternal). Monozygotic twins share 100% of their genes, while dizygotic twins share about 50%, similar to non-twin siblings. By comparing the concordance rates (the likelihood of both twins having the same disease) between monozygotic and dizygotic twins, researchers can estimate the heritability of a particular disease.

Studying diseases in twins also helps understand the role of environmental factors. When both twins develop the same disease, but they are discordant for certain risk factors (e.g., one twin smokes and the other does not), it suggests that the disease may have a stronger genetic component. On the other hand, when both twins share similar risk factors and develop the disease, it implies that environmental factors play a significant role.

Diseases in Twins research has contributed to our understanding of various medical conditions, including infectious diseases, cancer, mental health disorders, and developmental disorders. This knowledge can lead to better prevention strategies, early detection methods, and more targeted treatments for these diseases.

Glypicans are a type of heparan sulfate proteoglycan (HSPG) that are attached to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. They are involved in various biological processes, such as cell growth, differentiation, and migration, by regulating the distribution and activity of various signaling molecules, including morphogens, growth factors, and Wnt proteins. There are six distinct glypican genes (GPC1-6) identified in humans, each encoding a unique protein isoform with a conserved core structure but varying in their specific functions and expression patterns. Abnormal glypican expression or function has been implicated in several diseases, including cancer, developmental disorders, and neurodegenerative diseases.

Gigantism is a rare medical condition characterized by excessive growth and height significantly above average. This occurs due to an overproduction of growth hormone (GH), also known as somatotropin, during the growth phase in childhood. The pituitary gland, a small gland located at the base of the brain, is responsible for producing this hormone.

In gigantism, the pituitary gland releases too much GH, leading to abnormal bone and tissue growth. This condition is different from acromegaly, which is characterized by excessive GH production in adulthood after the growth phase has ended. In both cases, the excess GH can lead to various health complications, including cardiovascular disease, diabetes, hypertension, and joint problems.

Gigantism is typically caused by a benign tumor called a pituitary adenoma that presses against and stimulates the production of GH from the anterior pituitary gland. Treatment usually involves surgical removal of the tumor or medication to control GH levels, depending on the severity and progression of the condition. Early diagnosis and treatment are crucial for managing the symptoms and preventing long-term health complications associated with gigantism.

MedlinePlus is not a medical term, but rather a consumer health website that provides high-quality, accurate, and reliable health information, written in easy-to-understand language. It is produced by the U.S. National Library of Medicine, the world's largest medical library, and is widely recognized as a trusted source of health information.

MedlinePlus offers information on various health topics, including conditions, diseases, tests, treatments, and wellness. It also provides access to drug information, medical dictionary, and encyclopedia, as well as links to clinical trials, medical news, and patient organizations. The website is available in both English and Spanish and can be accessed for free.

Heparan sulfate proteoglycans (HSPGs) are complex molecules composed of a core protein to which one or more heparan sulfate (HS) glycosaminoglycan chains are covalently attached. They are widely distributed in animal tissues and play crucial roles in various biological processes, including cell-cell communication, growth factor signaling, viral infection, and cancer metastasis.

The HS chains are long, linear polysaccharides composed of repeating disaccharide units of glucosamine and uronic acid (either glucuronic or iduronic acid). These chains contain sulfate groups at various positions, which give them a negative charge and allow them to interact with numerous proteins, growth factors, and enzymes.

HSPGs can be found on the cell surface (syndecans and glypicans) or in the extracellular matrix (perlecans and agrin). They act as co-receptors for many signaling molecules, such as fibroblast growth factors (FGFs), wingless-type MMTV integration site family members (WNTs), and hedgehog proteins. By modulating the activity of these signaling pathways, HSPGs help regulate various cellular functions, including proliferation, differentiation, migration, and adhesion.

Dysregulation of HSPGs has been implicated in several diseases, such as cancer, fibrosis, and viral infections (e.g., HIV and herpes simplex virus). Therefore, understanding the structure and function of HSPGs is essential for developing new therapeutic strategies to target these diseases.

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.

'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.

Apparent macroglossia can also occur in Down syndrome. The tongue has a papillary, fissured surface. Macroglossia may be a sign ... Macroglossia is uncommon, and usually occurs in children. Macroglossia has been reported to have a positive family history in 6 ... Macroglossia may be caused by a wide variety of congenital and acquired conditions. Isolated macroglossia has no determinable ... The ICD-10 lists macroglossia under "other congenital malformations of the digestive system". Definitions of macroglossia have ...
Warren E. Morgan, M.D. (1992-05-28). "Macroglossia". Archived from the original on July 9, 2008. Retrieved 2009-07-22. ...
It may also include macroglossia. EMG is either normal or may show myopathic low amplitude and short motor unit's potential ( ...
Perkins, JA (December 2009). "Overview of macroglossia and its treatment". Current Opinion in Otolaryngology & Head and Neck ...
Surgery for macroglossia involves removing a small part of the tongue so that it fits within the mouth to allow for proper jaw ... Macroglossia in BWS becomes less noticeable with age and often requires no treatment; but it does cause problems for some ... 97th centile) Macroglossia Hemihyperplasia (asymmetric overgrowth of one or more regions of the body) Omphalocele (also called ... In severe cases, macroglossia can cause respiratory, feeding, and speech difficulties. Children with BWS and significant ...
Lubarsch-Pick syndrome A combination of systematized amyloidosis with macroglossia. Named in conjunction with pathologist ...
These abnormalities include micrognathia, macroglossia, anal atresia, and pulmonary hypoplasia. The most commonly associated ...
They can cause macroglossia (enlargement of the tongue) (1, 4). Venous Varix, like varicose vein, usually appear in older ...
ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. ...
Lubarsch-Pick syndrome: A rare combination of macroglossia with systematized amyloidosis of the skin and skeletal muscles. ...
Individuals with MPS VI may also experience macrocephaly, hydrocephalus, distinctive coarse facial features, macroglossia, ...
Macroglossia, an abnormally large tongue, can be associated with ulceration if the tongue protrudes constantly from the mouth. ...
Symptoms include accelerated growth, abnormal growth (hemihyperplasia), abdominal wall defects, macroglossia, hypoglycemia, ...
Macroglossia has been reported to cause open bite and bimaxillary protrusion and is also known to be make orthodontic treatment ... The anterior open bite in these patients may be caused by Macroglossia, Tongue thrusting habit or digit sucking habits.[ ... Tongue thrusting Thumb sucking Long-term usage of Pacifier Macroglossia Airway obstruction Adenoid hypertrophy Nasal concha ...
Mucosal neuromas Cutaneous capillary blush Ipsilateral macroglossia Syndromic hemimegalencaphaly Not all patients with facial ...
... macroglossia Hepatomegaly by 6 months and splenomegaly later; some have cardiac failure Skeletal deformities: flexion ...
Facial features include macroglossia, wide open mouth, wide open eyes, nasal flaring (due to respiratory distress), and poor ...
... macroglossia, candidiasis, aphthous ulcer and leukoplakia. To assess the tonsils, a patient opens their mouth and a tongue ...
Macroglossia is a rare condition, categorised by tongue enlargement which will eventually create a crenated border in relation ...
... macroglossia). Many infants with ML I are also born with skeletal malformations such as hip dislocation. Infants often develop ...
Hypoglossia - congenitally short tongue Microglossia Macroglossia - an abnormally large tongue, seen in some disorders such as ... Down syndrome (although macroglossia can be an acquired condition as well). Hamartomata - for example Leiomyomatous hamartoma ...
3-month-old infant with untreated CH; picture demonstrates hypotonic posture, myxedematous facies, macroglossia, and umbilical ... macroglossia). In the era before newborn screening, less than half of cases of severe hypothyroidism were recognized in the ... hernia Close up of face, showing myxedematous facies, macroglossia, and skin mottling Close up showing abdominal distension and ...
The airway in the head and neck may be obstructed with swelling associated with an enlarged tongue (macroglossia), tonsils, ...
May include one or more of the following symptons: Macrosomia Macroglossia Advanced bone age Organomegaly is especially noted ...
... macroglossia MeSH C07.465.910.708 - tongue, fissured MeSH C07.465.910.791 - tongue, hairy MeSH C07.465.910.874 - tongue ...
... it has been identified that mutation to this tumor suppressing gene can have dramatic effects in a newborn such as macroglossia ...
... foot Macrodactyly of the hand Macroepiphyseal dysplasia Mcalister Coe type Macroglobulinemia Macroglossia dominant Macroglossia ...
... or from any cause of macroglossia (enlarged tongue), which in itself has many causes such as Down syndrome. Where crenation is ...
Factors that can contribute to tongue thrusting include macroglossia (enlarged tongue), thumb sucking, large tonsils, ...
Exercise induced anaphylaxis Exfoliative dermatitis Exner syndrome Exogenous lipoid pneumonia Exomphalos-macroglossia-gigantism ...
Apparent macroglossia can also occur in Down syndrome. The tongue has a papillary, fissured surface. Macroglossia may be a sign ... Macroglossia is uncommon, and usually occurs in children. Macroglossia has been reported to have a positive family history in 6 ... Macroglossia may be caused by a wide variety of congenital and acquired conditions. Isolated macroglossia has no determinable ... The ICD-10 lists macroglossia under "other congenital malformations of the digestive system". Definitions of macroglossia have ...
Macroglossia, meaning large tongue, has been documented for many centuries, with the earliest known description thought to be ... Macroglossia can be subdivided into two categories: true macroglossia and relative macroglossia, also known as ... The term "true macroglossia" refers to macroglossia caused by histologic abnormalities within the tongue secondary to an ... Workup in macroglossia. Macroglossia involves numerous etiologic factors, but a carefully considered patient history can ...
Macroglossia, meaning large tongue, has been documented for many centuries, with the earliest known description thought to be ... Macroglossia can be subdivided into two categories: true macroglossia and relative macroglossia, also known as ... The term "true macroglossia" refers to macroglossia caused by histologic abnormalities within the tongue secondary to an ... Workup in macroglossia. Macroglossia involves numerous etiologic factors, but a carefully considered patient history can ...
Key Facts Macroglossia refers to the condition where an individual has an abnormally large tongue The enlargement can be ... Macroglossia - Causes, Meaning, in Newborn Baby, Hypothyroidism, Surgery, Down Syndrome July 11, 2023 / ... medical condition The management and treatment of macroglossia depend on the severity and underlying cause What is Macroglossia ... Macroglossia is a medical term used to describe a condition where the tongue is larger than normal. This enlargement of the ...
Macroglossia causes include more tissue on tongue linked to genetic disorders. ... Macroglossia refers to an enlarged tongue compared to other organs in the mouth. ...
Macroglossia, meaning large tongue, has been documented for many centuries, with the earliest known description thought to be ... The term "true macroglossia" refers to macroglossia caused by histologic abnormalities within the tongue, such as muscular ... encoded search term (Macroglossia) and Macroglossia What to Read Next on Medscape ... Macroglossia can result from a wide range of congenital and acquired conditions, although it is most frequently the product of ...
Macroglossia, meaning large tongue, has been documented for many centuries, with the earliest known description thought to be ... The term "true macroglossia" refers to macroglossia caused by histologic abnormalities within the tongue, such as muscular ... encoded search term (Macroglossia) and Macroglossia What to Read Next on Medscape ... Macroglossia can result from a wide range of congenital and acquired conditions, although it is most frequently the product of ...
macroglossia. How to sign: a congenital disorder characterized by an abnormally large tongue; often seen in cases of Downs ...
... Journal: International Journal of Advanced Research (Vol.8, No. 11) ... Labces de la base de langue est une entite tres rare quil faut suspecter devant une macroglossie aigue febrile.il sagit dune ...
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Cutaneous manifestations include macroglossia and pinch purpura. Interestingly, cases of systemic amyloidosis with renal ...
The patient had fevers (maximum temperature 39.5°C); tachycardia; oropharyngeal mucositis; glossitis; macroglossia; a tongue ...
... macroglossia), obesity, alcohol or sedative intake, and body position during sleep. ...
Macroglossia * Typical skin lesions * Post-proctoscopic peripalpebral purpura (eyelid purpura may also follow coughing, ...
Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique.. A A C Heggie, N J ... Macroglossia may contribute to anterior open bite malocclusion with prognathism, speech articulation disturbances, drooling and ... Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior ...
a large tongue (macroglossia. ) that may have a deep groove or furrow. down the middle, a broad nose with an upturned tip, and ...
Note, in (a), the macroglossia, with the tongue protruding out of the mouth, and partial obstruction of the oral cavity. Note ... Isolated macroglossia is rarely detected prenatally, and even when associated with Beckwith-Wiedemann syndrome, the diagnosis ... Congenital Subcutaneous Mixed Venous-Lymphatic Orofacial Malformation Associated with Macroglossia: Prenatal Diagnosis with ... of a subcutaneous mixed venous-lymphatic malformation associated with macroglossia aided the genetic counseling and the parents ...
5. Baby has Macroglossia: Larger Than Average Tongue. Macroglossia is a rare condition that enlarges the tongue out of the ... Moreover, this condition is often genetic, so babies affected with macroglossia might often have the condition from birth. ...
In children with trisomy 21, a narrow upper airway combined with macroglossia and hypotonic musculature predisposes them to OSA ...
A key OECD No. 422 study was conducted with the registered substance in Wistar rats (12/sex/group by oral gavage at 0 (distilled water), 100, 300 and 1000 mg solid/kg bw/day (Szalóki, 2021). Based on the results of the DRF study, 1000 mg solid/kg bw/day was selected as the High dose for this study but was reduced to 600 mg solid/kg bw/day at 4 weeks due to adverse clinical effects (local irritation) and mortality. Male and female Wistar rats were treated for 2 weeks pre-mating and then during the mating/post-mating periods. This was 28 days in total for males. Females were treated throughout gestation and up to and including postpartum/lactation day (PPD) 13. The systemic toxicity parameters are reported under the Section 7.5. The reproductive performance, pregnancy, parturition and postpartum/lactation period were monitored in the adult animals, and viability, clinical signs and development were evaluated in their F1 offspring until post-natal day (PND13). At termination, necropsy with ...
Macroglossia is usually caused by an underlying condition, or it could be present at birth without an underlying cause. It ...
Macroglossia is usually caused by an underlying condition, or it could be present at birth without an underlying cause. It ...
TheFetus.net website was created with the goal of sharing experiences in prenatal diagnosis to enrich the practitioners knowledge worldwide. Since the first case of the week was published in May 1999, we have become an international community that works together to improve healthcare across the globe. We appreciate support of any kind so we can continue to pursue this vision for many years to come. TheFetus.net is registered as a 501(c)3 non-profit organization with the United States Internal Revenue Service and your donations are tax deductible. TheFetus.net is generously supported by donations from the Thomas Nelson Abdella MD Foundation, which strives to support education in maternal fetal medicine. ...
TheFetus.net website was created with the goal of sharing experiences in prenatal diagnosis to enrich the practitioners knowledge worldwide. Since the first case of the week was published in May 1999, we have become an international community that works together to improve healthcare across the globe. We appreciate support of any kind so we can continue to pursue this vision for many years to come. TheFetus.net is registered as a 501(c)3 non-profit organization with the United States Internal Revenue Service and your donations are tax deductible. TheFetus.net is generously supported by donations from the Thomas Nelson Abdella MD Foundation, which strives to support education in maternal fetal medicine. ...
An enlarged tongue (macroglossia) can be a sign of amyloidosis. It can sometimes also appear rippled along its edge. ...
Macroglossia. Synonym: Abnormally Large Tongue. Synonym: Hyperplasia of The Tongue. Synonym: Hypertrophy of The Tongue ...
Abnormal growth may also manifest as hemihyperplasia and/or macroglossia (leading to difficulties in feeding, speech and ... In addition to macrosomia, macroglossia, hemihyperplasia and hypoglycemia, characteristic findings may include omphalocele/ ... macroglossia, or tumors. In patients who survive childhood, prognosis is generally good. ...
GENERAL MACROGLOSSIA) Mal Developed Generally 603 Forked 1 - Yes 1 Blank 20748 Tape Control Loc. ITEM DESCRIPTION & CODES ...
Brought to you by Merck & Co, Inc., Rahway, NJ, USA (known as MSD outside the US and Canada)-dedicated to using leading-edge science to save and improve lives around the world. Learn more about the Merck Manuals and our commitment to Global Medical Knowledge.. ...
  • Some propose a distinction between true macroglossia, when histologic abnormalities correlate with the clinical findings of tongue enlargement, and relative macroglossia, where histology does not provide a pathologic explanation for the enlargement. (wikipedia.org)
  • Macroglossia can be subdivided into two categories: true macroglossia and relative macroglossia, also known as pseudomacroglossia. (medscape.com)
  • The term "true macroglossia" refers to macroglossia caused by histologic abnormalities within the tongue secondary to an underlying condition, such as muscular hypertrophy and vascular malformation. (medscape.com)
  • Clinical appearance of "true macroglossia. (medscape.com)
  • The incidence of macroglossia has been reported as 11-60% in persons with Down Syndrome although the presence of true macroglossia has been questioned by some investigators. (intelligentdental.com)
  • Macroglossia may be caused by a wide variety of congenital and acquired conditions. (wikipedia.org)
  • Relevant examples pertaining to congenital syndromes include relative macroglossia associated with micrognathia in Pierre Robin syndrome and hypotonia in Down syndrome. (medscape.com)
  • Although the exact incidence of macroglossia in the general population is unknown (because the etiologies are too numerous to quantify), the condition is found in some congenital syndromes, such as Down syndrome (1 per 700 live births) and Beckwith-Wiedemann syndrome (0.07 per 1000 live births). (medscape.com)
  • Macroglossia can result from a wide range of congenital and acquired conditions, although it is most frequently the product of vascular malformations and muscular hypertrophy. (medscape.com)
  • Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism, and neonatal hypoglycaemia. (qxmd.com)
  • The most common presentation includes cold or mottled skin, macroglossia or umbilical hernia seen at the initial examination [15]. (symptoma.com)
  • The salient personal history included conception with assisted reproductive technology (ART), delivery by caesarean section due to suspected subclinical chorioamnionitis (week 28 +2 ), large weight and length for gestational age (at the 92th and 98th percentiles), umbilical hernia, mild macroglossia and hyaline membrane disease treated with one dose of surfactant. (analesdepediatria.org)
  • 10, 21- 23 Further support for this hypothesis comes from an experimental paradigm of RS in which mandibular hypoplasia and relative macroglossia precede palatal closure. (bmj.com)
  • Apparent macroglossia can also occur in Down syndrome. (wikipedia.org)
  • The initial evaluation of all patients with macroglossia may involve abdominal ultrasound and molecular studies for Beckwith-Wiedemann syndrome. (wikipedia.org)
  • whilst Down syndrome is an example of relative macroglossia. (wikipedia.org)
  • In Beckwith-Wiedemann syndrome, 97.5% of patients have macroglossia. (medscape.com)
  • Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique. (qxmd.com)
  • Although these retarded children all suffered from the same symptoms - the mental retardation, the age of presentation (usually 18 months), and enlarged tongues (macroglossia) - he announced that one group had what he called mongolism (today Down syndrome ) and another group had cretinism (today infant hypothyroidism ). (oup.com)
  • these include abdominal wall defects (such as abdominal wall opening and hernia, macrosomia , macroglossia, kidney problems, and creases near the ears. (alleydog.com)
  • Macroglossia may cause obstruction of the oral airway, which is usually worsened when the patient lies supine, allowing an enlarged tongue base to more directly block the oropharynx and hypopharynx. (medscape.com)
  • Factors affecting upper-airway size or patency include numerous anatomic variants and abnormalities (eg, nasal obstruction, retrognathia, macroglossia ), obesity, alcohol or sedative intake, and body position during sleep. (medscape.com)
  • In general, macroglossia, meaning large tongue, refers to the protrusion of the tongue beyond the alveolar ridge or teeth. (medscape.com)
  • Treatment and prognosis of macroglossia depends upon its cause, and also upon the severity of the enlargement and symptoms it is causing. (wikipedia.org)
  • Biopsies of small lesions in the anterior tongue can usually be safely performed in the clinic, but these small lesions are often not responsible for the global enlargement demonstrated in macroglossia. (medscape.com)
  • The two broadest categories under the heading of macroglossia relate to true tongue enlargement and pseudomacroglossia. (medscape.com)
  • Nonetheless, the locoregional complications of macroglossia are generally the same relative to the magnitude of the enlargement and the size of the tongue. (medscape.com)
  • Reduction for macroglossia is indicated for persistent protrusion or to allow correction of malocclusion. (lww.com)
  • This video demonstrates how to perform a tongue reduction using a Y-V advancement technique for pediatric macroglossia. (csurgeries.com)
  • There is agreement, however, on the presence of a relative macroglossia due to the small palatal space and hypotonic tongue. (intelligentdental.com)
  • Abnormal growth may also manifest as hemihyperplasia and/or macroglossia (leading to difficulties in feeding, speech and infrequently, sleep apnea). (orpha.net)
  • Macroglossia may contribute to anterior open bite malocclusion with prognathism, speech articulation disturbances, drooling and the perception of intellectual disability. (qxmd.com)
  • Macroglossia is the medical term for an unusually large tongue. (wikipedia.org)
  • In relative macroglossia, an individual has a normal-sized tongue that, as a result of oral or skeletal abnormalities, such as a narrow mandible (as found in many head and neck syndromes), seems unusually large. (medscape.com)
  • Speech and swallowing are also affected by macroglossia. (medscape.com)
  • Moreover, this condition is often genetic, so babies affected with macroglossia might often have the condition from birth. (twinstuff.com)
  • The Myer classification subdivides macroglossia into generalized or localized. (wikipedia.org)
  • Mechanical therapy may be useful in macroglossia with hypotonicity due to hypoglossal nerve deficit. (medscape.com)
  • Note, in ( a ), the macroglossia, with the tongue protruding out of the mouth, and partial obstruction of the oral cavity. (radiologykey.com)
  • Macroglossia is a rare condition that enlarges the tongue out of the normal proportions of the mouth which makes the tongue stick out of the mouth. (twinstuff.com)
  • Due to macroglossia, mouth may remain slightly open. (symptoma.com)
  • Macroglossia, meaning large tongue, has been documented for many centuries, with the earliest known description thought to be from around 1550 BC. (medscape.com)
  • Multiple shapes of keyhole tongue resection are utilized, depending on the size of the macroglossia. (medscape.com)
  • Macroglossia may be a sign of hypothyroid disorders. (wikipedia.org)
  • Macroglossia is a medical term used to describe a condition where the tongue is larger than normal. (dentalfreak.com)
  • Labces de la base de langue est une entite tres rare quil faut suspecter devant une macroglossie aigue febrile.il sagit dune urgence medico-chirurgicale pouvant engager le pronostic vital. (researchbib.com)