Steijlen P M, Neumann H A, der Kinderen D J, Smeets D F, van der Kerkhof P C, Happle R
Department of Dermatology, University Hospital Nijmegen, The Netherlands.
J Am Acad Dermatol. 1994 May;30(5 Pt 2):893-8. doi: 10.1016/s0190-9622(94)70108-3.
A syndrome of congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth was observed in four siblings (three women and one man). The pedigree is suggestive of either an autosomal recessive mode of inheritance or the inheritance of a (small) chromosomal translocation. This combination of findings has not been previously reported and is therefore considered to be a new genetic entity.
在四个兄弟姐妹（三名女性和一名男性）中观察到一种先天性无毛、掌跖角化过度、智力发育迟缓以及牙齿早失的综合征。该谱系提示为常染色体隐性遗传模式或（小）染色体易位的遗传。这种发现的组合此前尚未见报道，因此被认为是一种新的遗传实体。
