Kuklík M
Genetické oddĕlení pro kostní a zubní dysplazie dĕtské stomatologické kliniky 2. lékarské fakulty Univerzity Karlovy.
Cas Lek Cesk. 1990 Oct 5;129(40):1266-70.
The authors present in two case-histories of unrelated female patients the characteristics of the syndrome of ectodermal dysplasia with alopecia and absence of hair and concurrent immunodeficiency and a higher number of chromosomal breaks. In the probands some other important symptoms of ectodermal dysplasias were lacking, such as disorders of dentition and absence of sweat glands. In this affection, hitherto not mentioned in our literature in conjunction with an increased number of chromosomal breaks, the author draws attention to genetic and prenatal genetic associations. He assumes an autosomal recessive heredity of this nosological unit.
作者通过两名无关女性患者的病例史，呈现了外胚层发育不良综合征的特征，该综合征伴有脱发、毛发缺失、并发免疫缺陷以及较高数量的染色体断裂。在先证者中，缺乏外胚层发育不良的其他一些重要症状，如牙列紊乱和汗腺缺失。在这种迄今未在我们的文献中与染色体断裂数量增加相关提及的病症中，作者提请注意遗传和产前遗传关联。他假定这个疾病单元为常染色体隐性遗传。
