MICROCEPHALY, MENTAL-RETARDATION, CATARACTS, AND HYPOGONADISM IN SIBS - MARTSOLFS SYNDROME

被引:21
作者
HARBORD, MG [1 ]
BARAITSER, M [1 ]
WILSON, J [1 ]
机构
[1] HOSP SICK CHILDREN,DEPT CLIN GENET,GREAT ORMOND ST,LONDON WC1N 3JH,ENGLAND
关键词
D O I
10.1136/jmg.26.6.397
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:397 / 400
页数:4
相关论文
共 8 条
[1]   FAMILIAL JUVENILE NEPHRONOPHTHISIS, JEUNES SYNDROME, AND ASSOCIATED DISORDERS [J].
DONALDSON, MDC ;
WARNER, AA ;
TROMPETER, RS ;
HAYCOCK, GB ;
CHANTLER, C .
ARCHIVES OF DISEASE IN CHILDHOOD, 1985, 60 (05) :426-434
[2]  
FRYDMAN M, 1985, CLIN GENET, V27, P414
[3]   MARTSOLF SYNDROME IN A BROTHER AND SISTER - CLINICAL-FEATURES AND PATTERN OF INHERITANCE [J].
HENNEKAM, RCM ;
VANDEMEEBERG, AG ;
VANDOORNE, JM ;
DIJKSTRA, PF ;
BIJLSMA, JB .
EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (05) :539-543
[4]   VARIABILITY IN THE SMITH-LEMLI-OPITZ SYNDROME - OVERLAP WITH THE MECKEL SYNDROME [J].
LOWRY, RB .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 14 (03) :429-433
[5]   SEVERE MENTAL-RETARDATION, CATARACTS, SHORT STATURE, AND PRIMARY HYPOGONADISM IN 2 BROTHERS [J].
MARTSOLF, JT ;
HUNTER, AGW ;
HAWORTH, JC .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1978, 1 (03) :291-299
[6]   2 BROTHERS WITH MARTSOLFS SYNDROME [J].
SANCHEZ, JM ;
BARREIRO, C ;
FREILIJ, H .
JOURNAL OF MEDICAL GENETICS, 1985, 22 (04) :308-310
[7]  
SMITH DW, 1982, RECOGNIZABLE PATTERN, P158
[8]   MARTSOLFS SYNDROME IN A NON-JEWISH BOY [J].
STRISCIUGLIO, P ;
COSTABILE, M ;
ESPOSITO, M ;
DIMAIO, S .
JOURNAL OF MEDICAL GENETICS, 1988, 25 (04) :267-269