Ischiospinal dysostosis with cystic kidney disease: Report of two cases

Gen Nishimura, Ok Hwa Kim, Seiji Sato, Tomonobu Hasegawa

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4 Citations (Scopus)

Abstract

Ischiospinal dysostosis (ISD) is a recently described entity characterized by ischial hypoplasia and spinal segmental anomalies. Nephroblastomatosis that may manifest radiologically as 'polycystic kidney disease' has been regarded as a syndromic constituent of ISD. We report two children with ISD associated with 'renal cystic disease'. One child had multiple renal cysts resembling radiologically adult polycystic kidney disease, leading to renal dysfunction, whereas the other a solitary renal cyst with normal renal function. Renal malformations in ISD may be variable, ranging from diffuse nephroblastomatosis to a solitary renal cyst.

Original languageEnglish
Pages (from-to)101-104
Number of pages4
JournalClinical Dysmorphology
Volume12
Issue number2
DOIs
Publication statusPublished - 2003 Apr

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Keywords

  • Ischiospinal dysostosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

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