Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

被引：10

作者：

Al-Gazali, LI ^{[1
]}

Bakalinova, D ^{[1
]}

机构：

[1] United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Paediat & Radiol, Al Ain, U Arab Emirates

来源：

CLINICAL DYSMORPHOLOGY | 1998年 / 7卷 / 03期

关键词：

epiphyseal dysplasia; autosomal recessive; macrocephaly frontal lobe atrophy; lymphoedema;

D O I：

10.1097/00019605-199807000-00004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome. Clin Dysmorphol 7: 177-184. (C) 1998 Lippincott-Raven Publishers.

引用

页码：177 / 184

页数：8

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