Heterozygous manifestations of Langer mesomelic dysplasia
作者:
J. Goldblatt,
C. Wallis,
D. Vilioen,
P. Beighton,
期刊:
Clinical Genetics
(WILEY Available online 1987)
卷期:
Volume 31,
issue 1
页码: 19-24
ISSN:0009-9163
年代: 1987
DOI:10.1111/j.1399-0004.1987.tb02762.x
出版商: Blackwell Publishing Ltd
关键词: Autosomal recessive inheritance;limb malformation;mesomelic dysplasia;skeletal dysplasia
数据来源: WILEY
摘要:
The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen‐year period, the clinical and radiographic course of the condition in a boy with the Langer type of mesomelic dysplasia.It has been suggested that dyschondrosteosis or the Madelung deformity are the phenotypic manifestations of the gene which causes Langer mesomelic dysplasia in the homozygote. Several relatives on both sides of the family which we studied had malformations of their forearms, in keeping with this concept. However, these anomalies differed from those of dyschondrosteosis and the classical Madelung deformity; the exact syndromic status of the heterozygous phenotype remains unsettle
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