多毛症、萎缩性皮肤、睑外翻和大口畸形（巴伯 - 赛综合征）：一例新病例报告。

Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case.

作者信息

Martínez Santana S, Pérez Alvarez F, Frías J L, Martínez-Frías M L

机构信息

Unidad Neonatal, Hospital de Girona Dr. Trueta, Madrid, Spain.

出版信息

Am J Med Genet. 1993 Aug 1;47(1):20-3. doi: 10.1002/ajmg.1320470105.

DOI:10.1002/ajmg.1320470105

PMID:8368246

Abstract

We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6-9, 1982], and David et al. [Am J Med Genet 41:192-195, 1991].

摘要

我们报告了一名近亲结婚夫妇所生的儿童，该儿童呈现出多种先天性异常（MCA）模式，包括严重多毛症、大口畸形、睑外翻和萎缩性皮肤。据我们所知，这是第三例具有这种缺陷组合的病例。前两例由巴伯等人报道[《综合征识别VIII(1):6 - 9, 1982》]，以及大卫等人报道[《美国医学遗传学杂志》41:192 - 195, 1991]。