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伴有双叉股骨的胫骨发育不全、先天性心脏病以及唇腭裂或气管食管瘘:戈洛普 - 沃尔夫冈复合体的可能变异型

Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: possible variants of Gollop-Wolfgang complex.

作者信息

Erickson Robert P

机构信息

Department of Pediatrics, Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85724-5073, USA.

出版信息

Am J Med Genet A. 2005 Apr 30;134(3):315-7. doi: 10.1002/ajmg.a.30636.

Abstract

Two patients with bifurcation of one femur, ipsilateral absence of tibia and one partially formed tibia, or bilateral absent tibiae, club feet with normal or nearly normal digits, congenital heart disease and, in one case, tracheoesophageal fistula; in the second, cleft lip and cleft palate and enlarged head with increased fluid and lissencephaly, are described. These appear to be unique combinations of defects but overlap with the Gollop-Wolfgang complex is present, particularly with the case of possible Gollop-Wolfgang described by Raas-Rothschild et al.

摘要

描述了两名患者,一名患者股骨分叉、同侧胫骨缺如且一根胫骨部分形成,或双侧胫骨缺如、足内翻且趾正常或近乎正常、患有先天性心脏病,其中一例还伴有气管食管瘘;另一例患者唇腭裂、头部增大伴有脑脊液增多及无脑回畸形。这些似乎是独特的缺陷组合,但与戈洛普 - 沃尔夫冈综合征存在重叠,特别是与拉斯 - 罗斯柴尔德等人描述的可能的戈洛普 - 沃尔夫冈病例。

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