Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.
Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.
复制标题
踝睑-外胚层缺陷-唇腭裂综合征中的可变表达。
DOI：
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发表时间：
1987
期刊：
影响因子：
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通讯作者：
James F. Reynolds
中科院分区：
文献类型：
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作者：
Steven L. Greene;Virginia V. Michels;John A. Doyle;James F. Reynolds
睑缘粘连-外胚层缺陷-唇腭裂（Hay-Wells）综合征是一种罕见的常染色体显性形式的先天性外胚层发育不良。其特征为粗糙、粗硬、稀疏的毛发;营养不良的指甲;轻微的少汗;头皮感染;丝状睑粘连;牙齿发育不全;上颌发育不全;以及唇腭裂。迄今为止，已报告了12例患者;然而，其中3例患者的诊断受到质疑。我们报告2个额外的病人，其中一人有鼻音，但没有腭裂，在所有其他报告的患者。该实体必须与许多其他形式的外胚层发育不良相区别，特别是那些可能与口裂和/或眼睑粘连相关的形式。
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.