PRENATAL-DIAGNOSIS OF METATROPIC DWARFISM

被引：6

作者：

MANOUVRIER-HANU, S

DEVISME, L

ZELASKO, MC

BOURGEOT, P

VINCENT-DELORME, C

VALAT-RIGOT, AS

PUECH, F

FARRIAUX, JP

机构：

[1] HOP CALMETTE, ANATOMOPATHOL LAB, F-59037 LILLE, FRANCE

[2] MATERN CTR HOSP, F-59047 CAMBRAI, FRANCE

[3] SERV MED FOETALE MATERN, F-59037 LILLE, FRANCE

来源：

PRENATAL DIAGNOSIS | 1995年 / 15卷 / 08期

关键词：

LETHAL CHONDRODYSPLASIA; METATROPIC DYSPLASIA; PRENATAL DIAGNOSIS;

D O I：

10.1002/pd.1970150811

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal features of this rare autosomal recessive chondrodysplasia appear to be significant dwarfism with an enlarged head and a narrow thorax associated with enlargement of the hands and feet, and the radiographic 'dumb-bell' appearance of the long bones.

引用

页码：753 / 756

页数：4

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