Reardon W, Hall C M, Slaney S, Huson S M, Connell J, al-Hilaly N, Fixsen J, Baraitser M, Winter R M
Department of Paediatric Genetics, Hospitals for Sick Children, London, United Kingdom.
Am J Med Genet. 1993 Oct 1;47(5):788-92. doi: 10.1002/ajmg.1320470537.
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.
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。
