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中肢短小:一种先前未报道的常染色体隐性类型。

Mesomelic limb shortness: a previously unreported autosomal recessive type.

作者信息

Reardon W, Hall C M, Slaney S, Huson S M, Connell J, al-Hilaly N, Fixsen J, Baraitser M, Winter R M

机构信息

Department of Paediatric Genetics, Hospitals for Sick Children, London, United Kingdom.

出版信息

Am J Med Genet. 1993 Oct 1;47(5):788-92. doi: 10.1002/ajmg.1320470537.

Abstract

We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.

摘要

我们报告了一对近亲结婚所生的同胞,他们四肢中段短小且弯曲,伴有皮肤凹陷、小颌畸形、下颌发育不全、腭裂和屈曲指,这代表了一种此前显然未被报道过的综合征。文中讨论了放射学检查结果,尤其是关于主要已知诊断可能性的结果。

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