Reardon W, Hall C M, Shaw D G, Kendall B, Hayward R, Winter R M
Department of Clinical Genetics, Hospital for Sick Children, London, United Kingdom.
Am J Med Genet. 1994 Oct 1;52(4):432-7. doi: 10.1002/ajmg.1320520408.
We present a family with a radiologically distinct new form of autosomal dominant spondyloepiphyseal dysplasia, presenting with cervical instability and attendant neurological compromise and emphasise the radiological characteristics which delineate this condition. Cervical vertebral abnormalities, including malformation of the odontoid process, have been observed in some forms of spondyloepiphyseal dysplasia, but rarely lead to neurological sequelae, in contrast to the pedigree we describe.
我们报告了一个患有常染色体显性遗传性脊椎骨骺发育不良的家族，其影像学表现为一种独特的新形式，伴有颈椎不稳及随之而来的神经功能损害，并强调了界定这种疾病的影像学特征。在某些形式的脊椎骨骺发育不良中曾观察到颈椎异常，包括齿状突畸形，但与我们所描述的家系不同，这些异常很少导致神经后遗症。
