Bonafé J L, Larrègue M, Nougué J, Lamon P
Ann Dermatol Venereol. 1979 Dec;106(12):989-93.
The "D. E. F.-syndromes" consist of ectodermal dysplasia, cleft of the lip and/or palate (fente labiale et/ou palatine). This group includes the A. E. C.- and the E. E. C.-syndromes. We are reporting two cases of D. E. F.-syndrome, in which there was a very particular hair dysplasia, which we named "scrubbing-brush hair". The first case was a boy. The disease was probably transmitted on the dominant autosomal mode. The ectodermal dysplasia was of hypohidrotic type. The second case was also observed in a boy. There was no similar genetic abnormality in the family. The ectodermal dysplasia was of hidrotic types. The embryological findings account for the association between the ectodermal dysplasia and the medial dysraphia of the face.
“D.E.F.综合征”包括外胚层发育不全、唇裂和/或腭裂(唇裂和/或腭裂)。该组包括A.E.C.综合征和E.E.C.综合征。我们报告两例D.E.F.综合征病例,其中存在一种非常特殊的毛发发育异常,我们将其命名为“板刷样毛发”。第一例是一名男孩。该病可能以常染色体显性模式遗传。外胚层发育不全为少汗型。第二例也见于一名男孩。其家族中无类似的基因异常。外胚层发育不全为多汗型。胚胎学研究结果解释了外胚层发育不全与面部中线闭合不全之间的关联。