Silengo M C, Biagioli M, Bell G L, Bona G, Franceschini P
Clin Genet. 1987 Jan;31(1):13-8. doi: 10.1111/j.1399-0004.1987.tb02761.x.
Two patients with triphalangeal thumbs-ectrodactyly syndrome are described. The first case is a 4-year-old female with triphalangeal thumbs, preaxial polydactyly with rudimentary polydactyly of the 3rd finger of the right hand and ectro-syndactyly of feet. Her stillborn sister had triphalangeal thumbs and ectrodactyly of feet. The mother has triphalangeal thumbs, brachy-syndactyly of the left foot and ectro-syndactyly of the right one. The maternal grandmother has syndactyly of 1st, 2nd, 3rd toes and hypoplasia of the 3rd toe on the right foot. The second case is sporadic and shows triphalangeal thumbs, preaxial polydactyly of the right hand and bilateral lobster-claw feet. Our observations confirm the variability of clinical expression and support the autosomal dominant inheritance of the syndrome.
本文描述了两名患有三节拇指-缺指畸形综合征的患者。首例为一名4岁女性，患有三节拇指、右手拇指多指畸形伴第三指发育不全性多指畸形以及足部并指畸形。她的死产妹妹患有三节拇指和足部缺指畸形。母亲患有三节拇指、左脚短指并指畸形以及右脚并指畸形。外祖母右脚第一、二、三趾并指且第三趾发育不全。第二例为散发病例，表现为三节拇指、右手拇指多指畸形以及双侧龙虾爪样足。我们的观察结果证实了该综合征临床表现的变异性，并支持其常染色体显性遗传。
