缺指（趾）-外胚层发育不良-腭裂综合征：1例伴有全身性毛细血管扩张症的病例报告。
Ectrodactyly, ectodermal dysplasia, and cleft palate syndrome: report of a case with generalized telangiectasias.
作者信息
Arbesfeld D, Thomas I, Janniger C K, Desposito F, Lambert W C, Schwartz R A
机构信息
Department of Dermatology, University of Medicine and Dentistry, New Jersey Medical School.
出版信息
J Am Acad Dermatol. 1993 Aug;29(2 Pt 2):347-50. doi: 10.1016/0190-9622(93)70193-w.
PMID:8340512
Abstract
The ectrodactyly, ectodermal dysplasia, and cleft palate syndrome is a rare type of ectodermal dysplasia. It usually occurs either as an autosomal dominant trait or in a sporadic form. We describe a neonate with this syndrome and generalized telangiectasias, an association that, to the best of our knowledge, has not been previously reported.
摘要
缺指（趾）、外胚层发育不良和腭裂综合征是一种罕见的外胚层发育不良类型。它通常以常染色体显性特征出现或呈散发形式。我们描述了一名患有此综合征及全身性毛细血管扩张的新生儿，据我们所知，这种关联此前尚未有过报道。
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