SKELETAL DYSPLASIA, INTRACEREBRAL CALCIFICATIONS, OPTIC ATROPHY, HEARING IMPAIRMENT, AND MENTAL-RETARDATION - NOSOLOGY OF DYSOSTEOSCLEROSIS

被引：17

作者：

CHITAYAT, D

SILVER, K

AZOUZ, EM

机构：

[1] MONTREAL CHILDRENS HOSP, DEPT PEDIAT, DIV MED GENET, MONTREAL H3H 1P3, QUEBEC, CANADA

[2] MONTREAL CHILDRENS HOSP, CTR HUMAN GENET, MONTREAL H3H 1P3, QUEBEC, CANADA

[3] MONTREAL CHILDRENS HOSP, DEPT NEUROL, MONTREAL H3H 1P3, QUEBEC, CANADA

[4] MONTREAL CHILDRENS HOSP, DEPT RADIOL, MONTREAL H3H 1P3, QUEBEC, CANADA

[5] MCGILL UNIV, MONTREAL H3A 2T5, QUEBEC, CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 03期

关键词：

AUTOSOMAL RECESSIVE; SKIN FINDINGS; BLINDNESS; MENTAL RETARDATION; BONE DYSPLASIA; BONE DENSITY; DIAPHYSEAL CHANGES; METAPHYSEAL CHANGES; PRENATAL DIAGNOSIS; CARBONIC ANHYDRASE-II DEFICIENCY; COCKAYNE SYNDROME;

D O I：

10.1002/ajmg.1320430304

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A girl who presented at 3 months of life with severe developmental delay, blindness, and hearing impairment was found to have intracerebral calcifications. Skeletal films showed craniotubular bone modeling consistent with dysosteosclerosis. The nosology of this disorder is discussed.

引用

页码：517 / 523

页数：7

共 95 条

[1] A PROGRESSIVE FAMILIAL ENCEPHALOPATHY IN INFANCY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS [J].