Tonoki H, Ohura T, Niikawa N
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Am J Med Genet. 1988 Apr;29(4):857-62. doi: 10.1002/ajmg.1320290416.
We describe a malformation syndrome of bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch patterns in a chromosomally and mentally normal mother and son. Familial occurrence of this malformation complex has not been described previously and the manifestations of the patients do not correspond to those of any known malformation syndromes. The disorder in this family may be attributable to the pleiotropic effect of an autosomal or an X-linked dominant gene.
我们描述了一种在染色体和智力均正常的母亲和儿子身上出现的畸形综合征,其特征为双侧隐耳、短指中节指骨、趾甲发育不全以及指尖弓形纹增多。此前尚未有过这种畸形组合的家族性发病报道,且患者的表现也不符合任何已知的畸形综合征。这个家族中的病症可能归因于常染色体或X连锁显性基因的多效性作用。