BOOMERANG DYSPLASIA

被引：13

作者：

WINSHIP, I

CREMIN, B

BEIGHTON, P

机构：

[1] RED CROSS WAR MEM CHILDRENS HOSP,DEPT RADIOL,CAPE TOWN,SOUTH AFRICA

[2] UNIV CAPE TOWN,CAPE TOWN,SOUTH AFRICA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 04期

关键词：

lethal dwarfism; neonatal death dwarfism; skeletal dysplasia;

D O I：

10.1002/ajmg.1320360413

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Boomerang dysplasia is a recently delineated form of neonatally lethal dwarfism. A fourth case has been investigated and an increased range of phenotypic manifestations is documented in this article. So far all affected infants have been males and X-linked recessive inheritance is possible. Diagnostic criteria for Boomerang dysplasia are outlined.

引用

页码：440 / 443

页数：4

共 4 条

[1] NEW FORMS OF NEONATAL DEATH DWARFISM - REPORT OF 3 CASES [J].