Williams Syndrome: Rare genetic development that can lead to developmental problems
Etiology:Rare genetic disorder caused by missing genes. A person with Williams syndrome has a 50% chance of passing on the syndrome to their children. Occurs in 1:8,000 births.
Diagnosis: Diagnosis not always made at birth. Signs and symptoms can lead to blood work and genetic testing to determine diagnosis.
Systemic/medical conditions associated: Delayed speech that may later turn in strong speaking abilities. Developmental delays, easily distracted, ADD, feeding problems, clinodactyly or inward bend of the small finger, learning disorders, and mild to moderate mental disabilities. Personality traits include being very friendly, trusting strangers and interested in music. Short stature and sunken chest. Medical conditions include aortic stenosis, pulmonary stenosis. High blood pressure and hypercalcemia which may cause seizures.
Oral manifestations: Facial manifestations: Flatterned nasal bridge with upturned nose, long riges in skin, prominent lips with open mouth, epicanthal folds, partially missing teeth, defective tooth enamel or small widely spaced teeth.
Dental needs: Early treatment and prevention for those with defective tooth enamel. Making patient comfortable, non stress inducing appointment due to poor heart condition and blood pressure. General Anesthesia is more risky in these patients because of these conditions.
Recent information: Avoid taking extra calcium and vitamin D. Physical therapy and speech therapy is important for these patients.
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