Lethal multiple pterygium syndrome: Suggestion for a consistent pathological workup and review of reported cases

被引：0
|
作者：
Froster, UG
Stallmach, T
Wisser, J
Hebisch, G
Robbiani, MB
Huch, R
Huch, A
机构：
[1] UNIV ZURICH HOSP,DEPT OBSTET & GYNECOL,CLIN OBSTET,CH-8091 ZURICH,SWITZERLAND
[2] UNIV ZURICH HOSP,DEPT PATHOL,INST CLIN PATHOL,CH-8091 ZURICH,SWITZERLAND
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1997年 / 68卷 / 01期
关键词：
lethal multiple pterygium syndrome; nuchal edema; cleft palate;
D O I：
10.1002/(SICI)1096-8628(19970110)68:1<82::AID-AJMG16>3.0.CO;2-K
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on 2 brothers with lethal multiple pterygium syndrome (LMPS) born to nonconsanguineous parents as late spontaneous abortions, Both fetuses presented with massive nuchal edema, and facial anomalies including cleft palate and broad ribs, Apparently, several subgroups of LMPS exist, Differentiation is difficult, as there is no consistent agreement on a workup protocol for autopsies, We compared the findings in the literature on cases with LMPS, and we suggest a standardized workup as an initial step for more efficient differentiation between various subgroups. (C) 1997 Wiley-Liss, Inc.
引用
收藏
页码：82 / 85
页数：4
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