SIMPSON-GOLABI-BEHMEL SYNDROME - CONGENITAL DIAPHRAGMATIC-HERNIA AND RADIOLOGIC FINDINGS IN 2 PATIENTS AND FOLLOW-UP OF A PREVIOUSLY REPORTED CASE

被引:44
作者
CHEN, E [1 ]
JOHNSON, JP [1 ]
COX, VA [1 ]
GOLABI, M [1 ]
机构
[1] CHILDRENS HOSP MED CTR NO CALIF,OAKLAND,CA 94609
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 05期
关键词
OVERGROWTH; ILIAC INDEX; X-LINKED; SKELETAL ROENTGENOGRAMS;
D O I
10.1002/ajmg.1320460523
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
This report suggests the association of congenital diaphragmatic hernia in Simpson. Golabi-Behmel syndrome by describing two unrelated males with this malformation. One male was the maternal half-nephew of our previously reported 8-year-old boy with this syndrome. Review of the skeletal roentgenograms of these 2 affected males, and those of the previously reported 8-year-old, documents flare of the iliac wings, narrow sacroiliac notches, and the presence of two carpal ossification centers as a newborn (''advanced bone age''). We also report the follow-up of the 8-year-old boy, now 16 years old, who continues to have significant overgrowth and speech, dental, developmental, and adjustment problems.
引用
收藏
页码:574 / 578
页数:5
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