Ischiospinal dysostosis with rib gaps and nephroblastomatosis

Rib gaps, vertebral ossification defects, hypoplastic ischial bones and lar ge kidneys were present in a newborn. A renal biopsy showed nephroblastomat osis. The observation links two recently described conditions - 'ischiospin al dysostosis' and 'a new syndrome comprising vertebral anomalies and multi cystic kidneys' - and shows that nephroblastomatosis may be a manifestation of ischiospinal dysostosis. Ischiospinal dysostosis with nephroblastomatos is is one of a group of disorders characterized by developmental defects of the axial skeleton. It must be added to the conditions predisposing to Wil ms tumor formation. Clin Dysmorphol 10: 19-23 (C) 2001 Lippincott Williams & Wilkins.