Peltola J, Kuokkanen K
Acta Derm Venereol. 1978;58(1):65-8.
A family of 11 members with tricho-rhino-phalangeal syndrome (TRP syndrome) is described. The inheritance in five successive generations was autosomal dominant. The main features of the TRP syndrome noted were: sparse hair, pear-shaped nose and joint deformity with cone-shaped epiphyses at some of the middle phalanges of the hands.
本文描述了一个患有毛发-鼻-指综合征(TRP综合征)的11口之家。该综合征在连续五代中的遗传方式为常染色体显性遗传。所观察到的TRP综合征的主要特征为:毛发稀疏、梨形鼻以及手部一些中节指骨出现伴有锥形骨骺的关节畸形。