Spranger J, Self S, Clarkson K B, Pai G S
Greenwood Genetic Center, SC, 29646, USA.
Clin Dysmorphol. 2001 Jan;10(1):19-23. doi: 10.1097/00019605-200101000-00004.
Rib gaps, vertebral ossification defects, hypoplastic ischial bones and large kidneys were present in a newborn. A renal biopsy showed nephroblastomatosis . The observation links two recently described conditions - 'ischiospinal dysostosis' and 'a new syndrome comprising vertebral anomalies and multicystic kidneys' - and shows that nephroblastomatosis may be a manifestation of ischiospinal dysostosis. Ischiospinal dysostosis with nephroblastomatosis is one of a group of disorders characterized by developmental defects of the axial skeleton. It must be added to the conditions predisposing to Wilms tumor formation.
一名新生儿存在肋骨间隙、椎体骨化缺陷、坐骨发育不全及肾脏增大的情况。肾脏活检显示为肾母细胞瘤病。该观察结果将最近描述的两种病症——“坐骨脊柱发育不良”和“一种包含椎体异常及多囊肾的新综合征”联系起来，并表明肾母细胞瘤病可能是坐骨脊柱发育不良的一种表现。伴有肾母细胞瘤病的坐骨脊柱发育不良是一组以中轴骨骼发育缺陷为特征的病症之一。它必须被列入易引发肾母细胞瘤形成的病症之中。
