眼外胚层综合征：另外两例报告。

Oculo-ectodermal syndrome: report of two further cases.

作者信息

Lees M, Taylor D, Atherton D, Reardon W

机构信息

Department of Clinical Genetics, Great Ormond Street NHS Trust, London, United Kingdom.

出版信息

Am J Med Genet. 2000 Apr 24;91(5):391-5. doi: 10.1002/(sici)1096-8628(20000424)91:5<391::aid-ajmg14>3.0.co;2-f.

DOI:10.1002/(sici)1096-8628(20000424)91:5<391::aid-ajmg14>3.0.co;2-f

PMID:10767005

Abstract

We describe the clinical findings in two previously unreported, unrelated cases with aplasia cutis congenita and epibulbar dermoids, similar to the cases reported by Toriello et al. [1993]. In addition, one patient had bladder exstrophy with epispadias. These cases provide further evidence for the identification of the oculo-ectodermal syndrome as a distinct entity.

摘要

我们描述了两例先前未报告的、无亲缘关系的先天性皮肤发育不全合并眼球皮样瘤患者的临床发现，与托列洛等人[1993年]报告的病例相似。此外，一名患者患有膀胱外翻合并尿道上裂。这些病例为将眼外胚层综合征确定为一种独特的疾病提供了进一步的证据。