Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome.
作者信息
Gurrieri F, Cappa M, Neri G
机构信息
Istituto di Genetica Medica, Facoltà di Medicina e Chirurgia A. Gemelli, U.C.S.C., Roma, Italy.
出版信息
Am J Med Genet. 1992 Sep 15;44(2):136-7. doi: 10.1002/ajmg.1320440203.
PMID:1456280
Abstract
The Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, "coarse" face, postaxial polydactyly, midline defects, and psychomotor development ranging from normal to mildly retarded. We report on an additional sporadic patient with novel manifestations, contributing to a more thorough delineation of this syndrome.
摘要
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