title: Ischiospinal dysostosis with rib gaps and nephroblastomatosis.
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.
authors.affiliation: Greenwood Genetic Center, SC, 29646, USA.
authors.forename: J
authors.initials: J
authors.lastname: Spranger
authors.forename: S
authors.initials: S
authors.lastname: Self
authors.forename: K B
authors.initials: KB
authors.lastname: Clarkson
authors.forename: G S
authors.initials: GS
authors.lastname: Pai
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D007680:Kidney Neoplasms / Q000473:pathology*; D008297:Male; D010012:Osteogenesis; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D009396:Wilms Tumor / Q000473:pathology*