De Raeve L, Song M, De Dobbeleer G, Spehl M, Van Regemorter N
Department of Pediatric Dermatology, Free University of Brussels, Belgium.
Dermatologica. 1989;178(3):167-70. doi: 10.1159/000248418.
We report a newborn with some manifestations of chondrodysplasia punctata. Additional abnormalities were hydrocephalus, bilateral syndactyly of the fourth and fifth fingers and toes, absence of the middle phalanx of all toes, hypoplasia of the second and third phalanges of all fingers and cryptorchidism. This observation suggests that we are possibly dealing with a rare male case of X-linked dominant chondrodysplasia punctata.
我们报告了一名患有点状软骨发育不良某些表现的新生儿。其他异常包括脑积水、第四和第五手指及脚趾双侧并指（趾）、所有脚趾中节指骨缺如、所有手指第二和第三指骨发育不全以及隐睾症。这一观察结果表明，我们可能正在处理一例罕见的X连锁显性点状软骨发育不良男性病例。
