Ischiospinal dysostosis with rib gaps and nephroblastomatosis

Clin Dysmorphol. 2001 Jan;10(1):19-23. doi: 10.1097/00019605-200101000-00004.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Biopsy
  • Child, Preschool
  • Humans
  • Infant, Newborn
  • Kidney Neoplasms / pathology*
  • Male
  • Osteogenesis
  • Ribs / abnormalities*
  • Spine / abnormalities*
  • Wilms Tumor / pathology*