CODAS SYNDROME - A NEW DISTINCT MCA/MR SYNDROME WITH RADIOLOGICAL CHANGES OF SPONDYLOEPIPHYSEAL DYSPLASIA - ANOTHER CASE-REPORT

被引：14

作者：

DEALMEIDA, JCC

VARGAS, FR

BARBOSANETO, JG

LLERENA, JC

机构：

[1] FIOCRUZ MS,IFF,CTR GENET MED,BR-22250020 RIO JANEIRO,BRAZIL

[2] FED UNIV RIO DE JANEIRO,INST BIOFIS CCF,UNIDADE CITOGENET HUMANA,BR-21945 RIO JANEIRO,BRAZIL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 55卷 / 01期

关键词：

EYE ANOMALIES; DENTAL ANOMALIES; SKELETAL ANOMALIES; MCA/MR SYNDROME;

D O I：

10.1002/ajmg.1320550107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a young girl with psychomotor delay, cataracts, abnormally shaped teeth, malformed ears, and radiological findings of spondylo-epiphyseal dysplasia, The clinical picture resembles the CODAS syndrome described by Shebib et al, [Am J Med Genet 40: 88-93, 1991]. (C) 1995 Wiley-Liss, Inc.

引用

页码：19 / 20

页数：2