CEREBRO-OCULO-FACIO-SKELETAL SYNDROME - FURTHER DELINEATION

被引：16

作者：

GERSHONIBARUCH, R

LUDATSCHER, RM

LICHTIG, C

SUJOV, P

MACHOUL, I

机构：

[1] RAMBAM MED CTR,DEPT NEONATOL,IL-31096 HAIFA,ISRAEL

[2] RAMBAM MED CTR,DEPT PATHOL,IL-31096 HAIFA,ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 01期

关键词：

COFS SYNDROME; CONGENITAL MUSCULAR DYSTROPHY; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320410119

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a newborn infant with cerebrooculo-facio-skeletal (COFS) syndrome. Congenital muscular dystrophy-like changes were present in this patient. It is debated whether the clinical spectrum of the COFS phenotype should be expanded to include congenital muscular dystrophy:

引用

页码：74 / 77

页数：4

共 6 条

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