Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls.: A new MCA/MR syndrome?

被引:0
作者
Mégarbané, A
Ghanem, I
Romana, S
Gosset, P
Caillaud, C
机构
[1] Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon
[2] Hotel Dieu France, Serv Chirurg Orthoped, Beirut, Lebanon
[3] Hop Necker Enfants Malad, Cytogenet Serv, F-75743 Paris, France
[4] Hop Cochin, F-75674 Paris, France
来源
GENETIC COUNSELING | 2002年 / 13卷 / 02期
关键词
contractures; hip dislocation; mental retardation; microcephaly; scoliosis;
D O I
暂无
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Severe mental retardation, congenital contractures, short stature, microcephaly, ptosis, myopia, beaked nose, abnormal teeth, hip dislocation, and severe scollosis, are described in a 16-year-old and an unrelated 24-year-old females. Results of all laboratory investigations were normal. Review of the literature, of the London Dysmorphology Data Base and POSSUM did not yield to any diagnosis. Whether these patients present a new MCA/MR syndrome is discussed.
引用
收藏
页码:123 / 131
页数:9
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