PapersIschiospinal dysostosis with rib gaps and nephroblastomatosisSpranger, J.a; Self, S.b; Clarkson, K. B.a; Pai, G. S.cAuthor Information aGreenwood Genetic Center, Greenwood SC, USA bDepartment of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA cChildren's Hospital, Department of Genetics and Developmental Pediatrics, Medical University of South Carolina, Charleston, SC, USA Received: 1 May 2000; accepted: 17 July 2000 Correspondence to Dr J. Spranger, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, South Carolina 29646, USA. Fax: 864 941 8133 Clinical Dysmorphology: January 2001 - Volume 10 - Issue 1 - p 19-23 Buy 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. © 2001 Lippincott Williams & Wilkins, Inc.