A girl with the Weaver syndrome.

نویسندگان

  • E M Thompson
  • S Hill
  • J V Leonard
  • M E Pembrey
چکیده

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.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 24 4  شماره 

صفحات  -

تاریخ انتشار 1987