SCHINZEL-GIEDION-SYNDROME - REPORT OF 2 SIBS

被引：23
作者：
ANTICH, J
MANZANARES, R
CAMARASA, F
KRAUEL, X
VILA, J
CUSI, V
机构：
[1] HOSP ST JOAN DEU,SERV RADIOL,BARCELONA,SPAIN
[2] HOSP ST JOAN DEU,SERV PEDIAT,BARCELONA,SPAIN
[3] HOSP ST JOAN DEU,SERV NEONATOL,BARCELONA,SPAIN
[4] HOSP ST JOAN DEU,SERV PATOL,BARCELONA,SPAIN
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 01期
关键词：
SCHINZEL-GIEDION SYNDROME; SACROCOCCYGEAL TERATOMA; AUTOSOMAL-RECESSIVE SYNDROME;
D O I：
10.1002/ajmg.1320590119
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: ''coarse face'' with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma, This is the third case of malignancy in this syndrome, Patient 2 died shortly after birth. (C) 1995 Wiley-Liss, Inc.
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页码：96 / 99
页数：4
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