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
收藏
页码:136 / 137
页数:2
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