A girl with the Weaver syndrome.
A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000365:Age Determination by Skeleton; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D012723:Sex; D013577:Syndrome