[一例EEC（缺指（趾）畸形、外胚层发育不良和唇裂）综合征病例]

[A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome].

作者信息

Nakamura K, Yoshimasu H, Komuro C, Kobayashi A, Moon K, Sato M, Yamashiro M, Arai N, Shioiri S, Amagasa T

机构信息

First Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Tokyo Medical and Dental University.

出版信息

Kokubyo Gakkai Zasshi. 1991 Dec;58(4):718-24. doi: 10.5357/koubyou.58.718.

DOI:10.5357/koubyou.58.718

PMID:1795140

Abstract

EEC syndrome is a rare congenital malformation characterized by ectrodactyly, ectodermal dysplasia, cleft lip and/or palate. We reported a case of EEC syndrome with cleft palate. The patient was a 15-month-old girl. She had split hands of the upper extremities, syndactyly and polydactyly of the right lower extremity, ectodermal dysplasia including sparse hair, enamel hypoplasia and cleft palate. The patient underwent palatoplasty at the age of 18 months.

摘要

EEC综合征是一种罕见的先天性畸形，其特征为缺指（趾）畸形、外胚层发育不良、唇裂和/或腭裂。我们报告了一例伴有腭裂的EEC综合征病例。患者为一名15个月大的女孩。她有上肢裂手畸形、右下肢并指（趾）畸形和多指（趾）畸形，外胚层发育不良包括头发稀疏、牙釉质发育不全和腭裂。该患者在18个月大时接受了腭裂修复术。