Thompson E M, Hill S, Leonard J V, Pembrey M E
J Med Genet. 1987 Apr;24(4):232-4. doi: 10.1136/jmg.24.4.232.
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.
报告了一名患有韦弗综合征的女性。除了过度生长和骨龄提前的典型表现外，其面容典型，前额宽阔、眼距过宽、人中长、小颌畸形和耳朵大。与大多数其他韦弗综合征患者一样，她发育迟缓、肌张力亢进且声音嘶哑。其他临床特征包括指腹突出、指甲窄而凸、胸廓狭小、单侧尺骨远端脱位以及胸椎异常。
