胫骨缺如——多指畸形——伴有腓骨双下肢畸形的三节指骨拇指：是维尔纳（麦库西克188770）综合征的可变表达？
Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?
作者信息
Vargas F R, Pontes R L, Llerena Júnior J C, de Almeida J C
机构信息
Centro de Genetica Medica, IFF, Fiocruz, Rio de Janeiro, Brazil.
出版信息
Am J Med Genet. 1995 Jan 30;55(3):261-4. doi: 10.1002/ajmg.1320550303.
PMID:7726219
Abstract
We report on a family in which the autosomal dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed.
摘要
我们报告了一个常染色体显性遗传性沃纳综合征（WS）（MIM# 188770）累及三代十名成员的家族。除了胫骨缺如外，先证者还存在腓骨重复。文中讨论了可能的致病机制。
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