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Case Reports
. 1987 Apr;24(4):232-4.
doi: 10.1136/jmg.24.4.232.

A girl with the Weaver syndrome

E M Thompson, S Hill, J V Leonard, M E Pembrey
Case Reports

A girl with the Weaver syndrome

E M Thompson et al. 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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References

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