Kaissi Ali Al, Chehida Farid Ben, Latos-Bielenska Anna, Gharbi Hassan, Ghachem Maher Ben, Hendaoui Lofti, Kozlowski Kazimierz
Department of Orthopaedics, Hopital des Enfants Malades, Tunis, Tunesie.
Skeletal Radiol. 2007 Jan;36(1):77-81. doi: 10.1007/s00256-005-0073-1. Epub 2006 Mar 18.
We report a boy with ischial hypoplasia, vertebral malsegmentation and multiple other skeletal anomalies which do not fit well with any previously-described disorder. The proband's brother and mother were also slightly affected. We review the pertinent literature, discuss the differential diagnosis and suggest that this may be a previously unreported autosomal dominant disorder, with variable penetrance.We believe that the clinical and radiological features of various syndromes with ischial aplasia/hypoplasia and vertebral malsegmentation are not sufficiently different to justify the current separate categories of "ischio-vertebral dysplasia" and "ischio-spinal dysostosis". We suggest that the term "ischio-vertebral syndrome" should be used until identification of genes affecting ischial and axial morphogenesis is completed.
我们报告了一名患有坐骨发育不全、椎体节段异常及多种其他骨骼异常的男孩，这些异常与之前描述的任何疾病均不太相符。先证者的兄弟和母亲也受到了轻微影响。我们回顾了相关文献，讨论了鉴别诊断，并认为这可能是一种此前未报道的常染色体显性疾病，具有可变的外显率。我们认为，各种伴有坐骨发育不全/发育不良及椎体节段异常的综合征的临床和放射学特征差异不足以支持当前将“坐骨-椎体发育异常”和“坐骨-脊柱骨发育不全”分为不同类别的做法。我们建议在影响坐骨和轴向形态发生的基因被确定之前，应使用“坐骨-椎体综合征”这一术语。
