An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations

被引:14
作者
Al-Gazali, LI
Bakir, M
Hamud, OA
Gerami, S
机构
[1] UAE Univ, Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates
[2] Minist Hlth, Al Ain Hosp, Dept Paediat, Al Ain, U Arab Emirates
关键词
bifid nose; renal agenesis; anorectal malformations; autosomal recessive;
D O I
10.1097/00019605-200201000-00007
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report a consanguineous Arab family with four children affected with bifid nose associated with renal agenesis and variable degree of anorectal malformations. We suggest that the combination of abnormalities in these children represent a previously undescribed autosomal recessive syndrome.
引用
收藏
页码:33 / 38
页数:6
相关论文
共 24 条
[1]   DOMINANT INHERITANCE OF BIFID NOSE [J].
ANYANEYEBOA, K ;
RAIFMAN, MA ;
BERANT, M ;
FROGEL, MP ;
TRAVERS, H .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (03) :561-563
[2]  
BENJAMINS CE, 1927, ACTA OTOLARYNG, V11, P274
[3]   Pallister-Hall syndrome [J].
Biesecker, LG ;
Graham, JM .
JOURNAL OF MEDICAL GENETICS, 1996, 33 (07) :585-589
[4]  
BOOCHAI, 1965, PLAST RECONSTR SURG, V36, P626
[5]   ANORECTAL MALFORMATION - FAMILIAL ASPECTS AND ASSOCIATED ANOMALIES [J].
BOOCOCK, GR ;
DONNAI, D .
ARCHIVES OF DISEASE IN CHILDHOOD, 1987, 62 (06) :576-579
[7]   FRONTONASAL DYSPLASIA IN 2 SUCCESSIVE GENERATIONS [J].
FRYBURG, JS ;
PERSING, JA ;
LIN, KY .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (06) :712-714
[8]  
GORLIN RJ, 1976, SYNDROMES HEAD NECK, P319
[9]   An autosomal dominant syndrome of renal and anogenital malformations with syndactyly [J].
Green, AJ ;
Sandford, RN ;
Davison, BCC .
JOURNAL OF MEDICAL GENETICS, 1996, 33 (07) :594-596
[10]  
HUNTER P, 1993, CLIN RES, V42, pA52