Hay R J, Wells R S
Br J Dermatol. 1976 Mar;94(3):277-89. doi: 10.1111/j.1365-2133.1976.tb04384.x.
Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate. The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. Associated anomalies included lacrimal duct atresia, supernumerary nipples, syndactyly and auricular deformities. The inheritance of this abnormality was consistent with that of an autosomal dominant trait. The relationship between this and similar syndromes is discussed.
报告了来自四个家族的7名患者，他们患有一种遗传性疾病，其主要特征为睑 ankyloblepharon、外胚层缺陷以及唇腭裂。外胚层缺陷包括部分或完全脱发、指甲缺失或发育不良、牙齿尖且间距宽以及部分无汗症。相关异常包括泪管闭锁、多乳头、并指（趾）以及耳部畸形。这种异常的遗传方式与常染色体显性性状一致。文中讨论了此疾病与类似综合征之间的关系。
