A syndrome of short stature, mental retardation, facial dysmorphism, short webbed neck, skin changes and congenital heart disease

被引:0
作者
AlGazali, LI [1 ]
Aziz, SAA [1 ]
Salem, F [1 ]
机构
[1] SAQR HOSP,DEPT PAEDIAT,RAS AL KHAYMAH,U ARAB EMIRATES
关键词
short stature; menial retardation; peculiar facies; webbed neck; skin changes; congenital heart defects;
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report four sibs from a consanguineous Arab Bedouin family with short stature, mental retardation, a peculiar face, a short webbed neck, skin changes and congenital heart defects. We suggest that the constellation of abnormalities in these children could represent a newly recognized syndrome.
引用
收藏
页码:321 / 327
页数:7
相关论文
共 5 条
[1]   NOONAN SYNDROME - THE CHANGING PHENOTYPE [J].
ALLANSON, JE ;
HALL, JG ;
HUGHES, HE ;
PREUS, M ;
WITT, RD .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (03) :507-514
[2]  
GARCIASAGREDO JM, 1984, CLIN GENET, V26, P117
[3]  
MAXIMILIAN C, 1992, Genetic Counseling, V3, P115
[4]   STUDIES OF MALFORMATION SYNDROMES IN MAN-XXXX - MULTIPLE CONGENITAL ANOMALIES MENTAL RETARDATION SYNDROME OR VARIANT FAMILIAL DEVELOPMENTAL PATTERN - DIFFERENTIAL DIAGNOSIS AND DESCRIPTION OF MCDONOUGH SYNDROME (WITH XXY-SON FROM XY-XXY-FATHER) [J].
NEUHAUSER, G ;
OPITZ, JM .
ZEITSCHRIFT FUR KINDERHEILKUNDE, 1975, 120 (04) :231-242
[5]   NEW MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION SYNDROME WITH CARDIO-FACIO-CUTANEOUS INVOLVEMENT - THE CFC SYNDROME [J].
REYNOLDS, JF ;
NERI, G ;
HERRMANN, JP ;
BLUMBERG, B ;
COLDWELL, JG ;
MILES, PV ;
OPITZ, JM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (03) :413-427