ACRANIA - A MANIFESTATION OF THE ADAMS-OLIVER SYNDROME

被引:32
作者
CHITAYAT, D
MEUNIER, C
HODGKINSON, KA
ROBB, L
AZOUZ, M
机构
[1] MONTREAL CHILDRENS HOSP,DEPT PEDIAT,DIV MED GENET,MONTREAL H3H 1P3,QUEBEC,CANADA
[2] MONTREAL CHILDRENS HOSP,DEPT RADIOL,MONTREAL H3H 1P3,QUEBEC,CANADA
[3] MCGILL UNIV,CTR HUMAN GENET,MONTREAL H3A 2T5,QUEBEC,CANADA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 05期
关键词
TRANSVERSE TERMINAL LIMB ANOMALIES; VASCULAR DISRUPTION; APLASIA-CUTIS-CONGENITA;
D O I
10.1002/ajmg.1320440506
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 10-year-old male with acrania, distal limb anomalies, and abnormal arterial and venous cranial blood vessels is reported. Parental films and examination are normal. This case supports the hypothesis that acrania is a severe form of aplasia cutis congenita and is within the spectrum of Adams-Oliver syndrome. It is proposed that the diagnosis of acrania requires assessment of both parents and proband to assess other manifestations of vascular disruption in order to provide accurate genetic counselling.
引用
收藏
页码:562 / 566
页数:5
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