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直角弯曲股骨、腓骨缺如及手指异常的富尔曼综合征:另外两例病例

Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.

作者信息

Lipson A H, Kozlowski K, Barylak A, Marsden W

机构信息

Genetics and Dysmorphology Unit, Children's Hospital, Camperdown, Sydney, New South Wales, Australia.

出版信息

Am J Med Genet. 1991 Nov 1;41(2):176-9. doi: 10.1002/ajmg.1320410208.

Abstract

We describe 2 patients with bilateral right-angle bowing of femora, absence of fibulae, and reduced, flattened and nail-less toes and symmetrical fingernail deficiency in a consanguineous family of ethnic South Vietnamese Baptists and a non-consanguineous Polish family. These cases are similar to those reported by Fuhrmann et al. (in "Skeletal Dysplasias," New York: Alan R. Liss, Inc., pp 519-524), indicating possible autosomal recessive inheritance of this rare non-lethal limb malformation syndrome.

摘要

我们描述了2例患有双侧股骨直角弯曲、腓骨缺如、脚趾短小、扁平且无趾甲以及对称性指甲缺失的患者,分别来自一个越南裔南浸信会近亲家庭和一个非近亲的波兰家庭。这些病例与Fuhrmann等人(发表于《骨骼发育不良》,纽约:艾伦·R·利斯公司,第519 - 524页)报道的病例相似,提示这种罕见的非致死性肢体畸形综合征可能为常染色体隐性遗传。

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