| Literature DB >> 3585940 |
E M Thompson, S Hill, J V Leonard, M E Pembrey.
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.Entities:
Mesh:
Year: 1987 PMID: 3585940 PMCID: PMC1050003 DOI: 10.1136/jmg.24.4.232
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318