Prenatal diagnosis of MPPH syndrome

被引：4
作者：
De Keersmaecker, Bart [1 ]
Van Esch, Hilde [2 ]
Van Schoubroeck, Dominique [1 ]
Claus, Filip [3 ]
Moerman, Philippe [4 ]
De Catte, Luc [1 ]
机构：
[1] Katholieke Univ Leuven Hosp, Dept Obstet & Gynecol, Louvain, Belgium
[2] Katholieke Univ Leuven Hosp, Dept Genet, Louvain, Belgium
[3] Katholieke Univ Leuven Hosp, Dept Radiol, B-3000 Louvain, Belgium
[4] Katholieke Univ Leuven Hosp, Dept Pathol, Louvain, Belgium
来源：
PRENATAL DIAGNOSIS | 2013年 / 33卷 / 03期
关键词：
PERISYLVIAN POLYMICROGYRIA; HYDROCEPHALUS MPPH; MALFORMATION;
D O I：
10.1002/pd.4039
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report the prenatal sonographic detection of a fetus with megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly. Only 14 patients have been reported in the literature so far, all but one were diagnosed postnatally. The polymicrogyria in the frontoparietal lobe was confirmed by prenatal magnetic resonance imaging. Additionally, a hypoplastic thymus as seen in a 22q11 deletion was present. Although polymicrogyria along with pre-axial polydactyly has been described in 22q11 deletion, the diagnosis of Di George syndrome was ruled out. The etiology of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly has not been revealed yet. A dominant as well as recessive inheritance has been suggested. (c) 2013 John Wiley & Sons, Ltd.
引用
收藏
页码：292 / 295
页数：4
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