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Report of a case and further delineation of the SHORT syndrome.

作者信息

Toriello H V, Wakefield S, Komar K, Higgins J V, Waterman D F

出版信息

Am J Med Genet. 1985 Oct;22(2):311-4. doi: 10.1002/ajmg.1320220214.

DOI:10.1002/ajmg.1320220214
PMID:4050863
Abstract

We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature. In addition, this boy had deafness, which was not previously reported in the SHORT syndrome.

摘要

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