CARTILAGE HAIR HYPOPLASIA IN INFANCY - A MISLEADING CHONDRODYSPLASIA

被引：18

作者：

LEMERRER, M

MAROTEAUX, P

机构：

[1] HOP ENFANTS MALAD,CNRS,URA584,149 RUE SEVRES,PARIS 15,FRANCE

[2] HOP ENFANTS MALAD,INSERM,U12,UNITE HANDICAPS GENET ENFANT,PARIS 15,FRANCE

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1991年 / 150卷 / 12期

关键词：

ROUND EPIPHYSES; METAPHYSEAL DYSPLASIA; CARTILAGE HAIR HYPOPLASIA; DWARFISM; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1007/BF01955006

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Among children with recessive metaphyseal dysplasia, cartilage hair hypoplasia, as described by McKusick is often recognized only during the 2nd year or later. The early radiological changes observed in six children with cartilage hair hypoplasia demonstrate the misleading aspect of this chondrodysplaslia: micromelia, massive appearance of the long bones and round inferior femoral epiphyses, without distinct metaphyseal involvement. Early diagnosis permits the organisation of clinical, immunological and orthopaedic follow up and allows for correct genetic counselling.

引用

页码：847 / 851

页数：5

共 17 条

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