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法因戈尔德综合征:一个新家族的报告及文献综述

Feingold syndrome: report of a new family and review.

作者信息

Courtens W, Levi S, Verbelen F, Verloes A, Vamos E

机构信息

Department of Medical Genetics, Brugmann University Hospital, Brussels, Belgium.

出版信息

Am J Med Genet. 1997 Nov 28;73(1):55-60.

PMID:9375923
Abstract

Feingold syndrome (or oculodigitoesophagoduodenal syndrome; Microcephaly, Mesobrachyphalangy, Tracheo-esophageal fistula syndrome) is a dominantly inherited combination of hand and foot abnormalities, microcephaly, esophageal/duodenal atresia, short palpebral fissures and learning disabilities, first reported in 1975 (MIM 164280). We report on the seventh family with Feingold syndrome. The propositus is a male infant with esophageal and duodenal atresia, brachymesophalangy of the fifth fingers, bilateral syndactyly of toes 4-5 (and 2-3), relative microcephaly, and facial anomalies. His mother also has microcephaly, similar facial appearance, short fifth fingers with single flexion crease, syndactyly of toes 4-5, and learning disabilities. The maternal sister, brother, and grandmother of the propositus have the same phenotype. The 7 families with Feingold syndrome are reviewed. Intestinal (esophageal/duodenal) atresia/obstruction occurs in approximately 1/3 of the patients with Feingold syndrome.

摘要

法因戈尔德综合征(或眼指食管十二指肠综合征;小头畸形、中短指畸形、气管食管瘘综合征)是一种以手足异常、小头畸形、食管/十二指肠闭锁、睑裂短小和学习障碍为主要特征的常染色体显性遗传病,于1975年首次报道(MIM 164280)。我们报告了第七个患有法因戈尔德综合征的家族。先证者是一名男婴,患有食管和十二指肠闭锁、第五指中短指畸形、双侧4-5趾(以及2-3趾)并指、相对小头畸形和面部异常。他的母亲也有小头畸形、相似的面部外观、第五指短小且有单一褶皱、4-5趾并指以及学习障碍。先证者的母亲的姐姐、哥哥和祖母具有相同的表型。对7个患有法因戈尔德综合征的家族进行了回顾。肠道(食管/十二指肠)闭锁/梗阻在大约1/3的法因戈尔德综合征患者中出现。

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