Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation

被引：13

作者：

Bieganski, T

Dawydzik, B

Kozlowski, K

机构：

[1] Royal Alexandra Hosp Children, Dept Radiol, Sydney, NSW, Australia

[2] Centrum Zdrowia Matki Polki, Dept Radiol, Lodz, Poland

[3] Centrum Zdrowia Matki Polki, Dept Metab Disorders, Lodz, Poland

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1999年 / 158卷 / 10期

关键词：

spondylo-epimetaphyseal dysplasia; mental retardation; X-linked inheritance;

D O I：

10.1007/s004310051211

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A new X-linked variant of spondylo-epimetaphyseal dysplasia with distinctive phenotype and severe mental retardation in three boys of one family is reported. The children were normal at birth. After several months of normal development progressive physical disability and slow mental deterioration were observed. Extensive biochemical tests were normal. Conclusion These patients represent a new form of X-linked spondylo-epimetaphyseal dysplasia.

引用

页码：809 / 814

页数：6

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