ACHONDROGENESIS - CLINICAL AND RADIOLOGICAL REPORT

被引：5

作者：

HO, NK

TAN, G

机构：

[1] THOMSON RD GEN HOSP, NEONATAL UNIT, SINGAPORE, SINGAPORE

[2] THOMSON RD GEN HOSP, SINGAPORE, SINGAPORE

来源：

AUSTRALASIAN RADIOLOGY | 1976年 / 20卷 / 02期

关键词：

D O I：

10.1111/j.1440-1673.1976.tb02014.x

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

Achondrogenesis is a rare form of short-limbed dwarfism which is invariably lethal. This is the 1st reported case of achondrogenesis in Singapore. As most newborns with a large head and short limbs are assumed to have achondroplasia, the importance of radiological studies of short-limbed dwarfism is stressed. Recognition of achondrogenesis has an important implication in genetic counseling, as present evidence suggests that it is an autosomal recessive disorder.

引用

页码：165 / 168

页数：4

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