Case Reports
doi: 10.1136/jmg.24.4.232.
A girl with the Weaver syndrome
- PMID: 3585940
- PMCID: PMC1050003
- DOI: 10.1136/jmg.24.4.232
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Case Reports
A girl with the Weaver syndrome
J Med Genet.
1987 Apr.
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.
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