Jorgenson R J, Dowben J S, Dowben S L
Department of Pediatric Dentistry, University of Texas Health Science Center, San Antonio 78284.
J Craniofac Genet Dev Biol. 1987;7(4):403-12.
A three generation family with hypohidrotic ectodermal dysplasia (ED) is presented. Attempts to categorize the disorder in the family as one of the recognized types of ED were unsuccessful. Affected members of the family have mild hypotrichosis, mild hypodontia, and variable degrees of hypohidrosis. Autosomal dominant inheritance is proposed. Scanning electron microscopy on the hair of members of the family is presented. While there is no specific pattern of defects of the hair of affected persons, the cuticular layer is defective and there are longitudinal grooves in the hair shafts.
本文介绍了一个患有少汗性外胚层发育不良（ED）的三代家族。将该家族中的疾病归类为已确认的ED类型之一的尝试未成功。该家族的受影响成员有轻度毛发稀少、轻度牙发育不全和不同程度的少汗。提出了常染色体显性遗传。展示了对该家族成员头发的扫描电子显微镜检查结果。虽然受影响者的头发没有特定的缺陷模式，但角质层有缺陷，毛干有纵向凹槽。
