HOLOPROSENCEPHALY POLYDACTYLY (PSEUDOTRISOMY 13) SYNDROME - A SYNDROME WITH FEATURES OF HYDROLETHALUS AND SMITH-LEMLI-OPITZ SYNDROMES - A COLLABORATIVE MULTICENTER STUDY

被引：29

作者：

VERLOES, A

AYME, S

GAMBARELLI, D

GONZALES, M

LEMERRER, M

MULLIEZ, N

PHILIP, N

ROUME, J

机构：

[1] HOP LA TIMONE,CTR MED GENET,F-13005 MARSEILLE,FRANCE

[2] HOP LA TIMONE,INSERM,U242,F-13005 MARSEILLE,FRANCE

[3] HOP LA TIMONE,DEPT PATHOL,F-13005 MARSEILLE,FRANCE

[4] HOP ST ANTOINE,DEPT EMBRYOL & FETAL PATHOL,F-75571 PARIS 12,FRANCE

[5] HOP NECKER ENFANTS MALAD,GENET MED CLIN,F-75730 PARIS 15,FRANCE

[6] HOP NECKER ENFANTS MALAD,INSERM,U12,F-75730 PARIS 15,FRANCE

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 05期

关键词：

D O I：

10.1136/jmg.28.5.297

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

引用

页码：297 / 303

页数：7

共 34 条

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