Adams-Oliver syndrome:: further evidence for autosomal recessive inheritance

被引:0
作者
Ünay, B [1 ]
Sarici, SÜ
Gül, D
Akin, R
Gökçay, E
机构
[1] Gulhane Mil Med Acad, Dept Pediat, TR-06018 Ankara, Turkey
[2] Gulhane Mil Med Acad, Dept Med Genet, TR-06018 Ankara, Turkey
[3] Fac Med, TR-06018 Ankara, Turkey
关键词
Adams-Oliver syndrome; intracranial calcification; epilepsy; autosomal recessive;
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 a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects. Clin Dysmorphol 10: 223-225 (C) 2001 Lippincott Williams & Wilkins.
引用
收藏
页码:223 / 225
页数:3
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