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10 years old child present with bilateral swelling of submandibular area, what could be the disease:
- Fibrous dysphasia.
- Cherubism ***
- Polymorphic adenoma.
How is Williams syndrome identified?
The condition is typically diagnosed when your child is a baby or early during childhood. If your healthcare provider suspects your child has Williams syndrome, they will provide a physical examination of your child, followed by a genetic test, which is a blood test that identifies gene differences.
How is Jacobsen syndrome diagnosed?
Genetic testing is necessary to confirm a Jacobsen syndrome diagnosis. During genetic testing, magnified chromosomes are evaluated under a microscope. They're stained to give them a “barcode” appearance. The broken chromosome and the genes that have been deleted will be visible.
How common is Williams syndrome?
Frequency. Williams syndrome affects an estimated 1 in 7,500 to 18,000 people.
What is Mowat Wilson syndrome?
Collapse Section. Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
What causes Jacobsen syndrome?
Jacobsen syndrome (JS) is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The condition was first described by Jacobsen in 1973 in a family with multiple members that inherited an unbalanced 11;21 translocation derived from a balanced translocation carrier parent .
What is Ramon syndrome?
A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability.
What are the oral manifestations of cherubism?
Clinically, cherubism is characterized by bilateral enlargement of the mandible and/or maxilla, causing a rounded face and swollen cheeks accompanied by upward-looking eyes.
What is the cause of cherubism?
The cause of cherubism is believed to be traced to a genetic defect resulting from a mutation of the SH3BP2 gene from chromosome 4p16. 3. While the condition is rare and painless, the afflicted suffer the emotional trauma of disfigurement. The effects of cherubism may also interfere with normal jaw motion and speech.
What is the differential diagnosis for cherubism?
Differential diagnosis includes Noonan-like syndrome, hyperparathyroidism-jaw tumor syndrome, fibrous dysplasia of bone (see these terms), brown tumor of hyperparathyroidism, and central giant-cell granuloma.
What syndrome is associated with cherubism?
Additionally, cherubism-like growths have been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, short stature, and heart defects), fragile X syndrome (a condition primarily affecting males that causes learning disabilities and cognitive impairment), ...
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