American journal of medical genetics 1999-Dec
W syndrome: report of three cases and review.
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يتم حفظ الارتباط في الحافظة
الكلمات الدالة
نبذة مختصرة
Only three cases of W syndrome have been reported. These patients have a typical "pugilistic" face, incomplete oral cleft, absent upper incisors, mental retardation, spasticity, seizures, and acne scars. Two of them had additional skeletal anomalies. Here we report on three male patients with findings compatible with the W syndrome. We emphasize the importance of some constant findings and describe additional signs. Familial history supports X-linked dominant heredity, as postulated previously.