Ischiospinal dysostosis with cystic kidney disease: Report of two cases

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

doi:10.1097/00019605-200304000-00005

Ischiospinal dysostosis with cystic kidney disease: Report of two cases

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

Department of Pediatrics

Research output: Contribution to journal › Article › peer-review

6 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 language	English
Pages (from-to)	101-104
Number of pages	4
Journal	Clinical Dysmorphology
Volume	12
Issue number	2
DOIs	https://doi.org/10.1097/00019605-200304000-00005
Publication status	Published - 2003 Apr

Keywords

Ischiospinal dysostosis

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Anatomy
Pathology and Forensic Medicine
Genetics(clinical)

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10.1097/00019605-200304000-00005

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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.",

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AB - 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.

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Ischiospinal dysostosis with cystic kidney disease: Report of two cases

Abstract

Keywords

ASJC Scopus subject areas

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