A girl with the Weaver syndrome

J Med Genet. 1987 Apr;24(4):232-4. doi: 10.1136/jmg.24.4.232.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Age Determination by Skeleton
  • Bone Diseases, Developmental / diagnosis*
  • Child, Preschool
  • Face / abnormalities
  • Female
  • Humans
  • Sex
  • Syndrome