Greene S L, Michels V V, Doyle J A
Am J Med Genet. 1987 May;27(1):207-12. doi: 10.1002/ajmg.1320270123.
The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells) syndrome is a rare autosomal dominant form of congenital ectodermal dysplasia. It is characterized by coarse, wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; and cleft lip and palate. To date, 12 patients have been reported; however, the diagnosis has been questioned in 3 of these patients. We report 2 additional patients, one of whom has nasal speech but not cleft palate, in contrast to all other reported patients. This entity must be distinguished from numerous other forms of ectodermal dysplasia, especially those forms that can be associated with oral clefts and/or ankyloblepharon.
睑缘粘连-外胚层缺陷-唇腭裂（海-韦氏）综合征是一种罕见的常染色体显性先天性外胚层发育不良形式。其特征为毛发粗糙、硬且稀疏；指甲营养不良；轻度少汗；头皮感染；先天性丝状粘连性睑缘粘连；牙发育不全；上颌骨发育不全；以及唇腭裂。迄今为止，已报道12例患者；然而，其中3例患者的诊断受到质疑。我们报告另外2例患者，其中1例有鼻音但无腭裂，这与其他所有报道的患者不同。该病症必须与众多其他形式的外胚层发育不良相区分，尤其是那些可能与口腔裂隙和/或睑缘粘连相关的形式。
