[鲁宾斯坦-泰比综合征。2例报告]

[Rubinstein-Taybi syndrome. Report of 2 cases].

作者信息

Wittig E O, Cat I, De Carvalho N E, Magdalena N I, Freire-Maia N

出版信息

Arq Neuropsiquiatr. 1975 Dec;33(4):382-8. doi: 10.1590/s0004-282x1975000400008.

DOI:10.1590/s0004-282x1975000400008

PMID:1191099

Abstract

Two non-inbred cases of Rubinstein-Taybi syndrome is two non-related sibships with a total of 16 sibs are reported. Clinical features are those classicaly reported. One of the patients (case 1) presents left post-axial polydactily and a history of hydramnion. The cariotype is normal in the other patient (case 2). Nothing is added in this paper as regards the etiology of the syndrome.

摘要

本文报告了两例非近亲结婚的鲁宾斯坦-泰比综合征病例，分属两个无亲缘关系的家系，共有16名同胞。临床特征为经典报道的那些。其中一名患者（病例1）有左手轴后多指畸形及羊水过多病史。另一名患者（病例2）染色体核型正常。本文未提及该综合征的病因。