迟发性家族性脊椎骨骺发育不良的一种此前未被认识的形式，伴有特征性面容。
Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies.
作者信息
Huson S M, Crowley S, Hall C M, Supramaniam G, Winter R M
机构信息
Department of Medical Genetics, Churchill Hospital, Oxford, UK.
出版信息
Clin Dysmorphol. 1993 Jan;2(1):20-7.
PMID:8298734
Abstract
Three sibs, the offspring of first cousin Pakistani parents, are reported with an apparently 'new' form of spondyloepiphyseal dysplasia with microcephaly, unusual facies and moderate developmental delay.
摘要
据报道，有三个兄弟姐妹，其父母为巴基斯坦近亲表亲，他们患有一种明显“新型”的脊柱骨骺发育不良，伴有小头畸形、特殊面容和中度发育迟缓。
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