| Joubert syndrome with nephronophthisis in neurofibromatosis type 1. | |
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MedLine Citation:
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PMID: 21743231 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation. It may be associated other systemic abnormalities like ocular (e.g., retinal dysplasia, etc.), oculomotor, musculoskeletal and renal (e.g., cystic dysplasia, nephronophthisis), with renal failure. We describe a case of JS with nephronophthisis in neurofibromatosis Type 1 leading to end-stage renal disease, a association that has never been described earlier in the medical literature to the best of our knowledge. |
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Authors:
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Javed Ahmed; Uma S Ali |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia Volume: 22 ISSN: 1319-2442 ISO Abbreviation: Saudi J Kidney Dis Transpl Publication Date: 2011 Jul-Aug |
Date Detail:
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Created Date: 2011-07-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436968 Medline TA: Saudi J Kidney Dis Transpl Country: Saudi Arabia |
Other Details:
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Languages: eng Pagination: 788-91 Citation Subset: IM |
Affiliation:
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Department of Pediatric Nephrology, B.J. Wadia Hospital for Children, Parel, Mumbai, India. |
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Descriptor/Qualifier:
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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