FURTHER DELINEATION OF THE SIMPSON-GOLABI-BEHMEL (SGB) SYNDROME

被引：25

作者：

GURRIERI, F

CAPPA, M

NERI, G

机构：

[1] UNIV CATTOLICA SACRO CUORE, FAC MED & CHIRURG A GEMELLI, IST GENET MED, LARGO F VITO 1, I-00168 ROME, ITALY

[2] OSPED BAMBINO GESU, IST RIC SCI, DIV ENDOCRINOL, ROME, ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 02期

关键词：

X-LINKED SYNDROME; OVERGROWTH; COARSE FACE; DILATED CARDIOMYOPATHY; DIAPHRAGMATIC HERNIA; DEVELOPMENTAL DELAY;

D O I：

10.1002/ajmg.1320440203

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：136 / 137

页数：2

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