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Ischiospinal dysostosis with cystic kidney disease: report of two cases.

Authors
Nishimura, G; Kim, OH; Sato, S; Hasegawa, T
Citation
Clinical dysmorphology, 12(2):101-104, 2003
Journal Title
Clinical dysmorphology
ISSN
0962-88271473-5717
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.
MeSH terms
Child, PreschoolDysostoses/physiopathology*Dysostoses/radiographyFemaleHumansInfantInfant, NewbornIschium/abnormalities*Ischium/physiopathologyIschium/radiographyKidney Diseases, Cystic/physiopathology*Kidney Diseases, Cystic/radiographyMaleSpine/abnormalities*Spine/physiopathologySpine/radiography
DOI
10.1097/01.mcd.0000058254.06646.16
PMID
12868471
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
AJOU Authors
김, 옥화
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