Nail-Patella Syndrome: A Case Report

Nail-Patella Syndrome: A Case Report

Nail-patella syndrome (NPS), also known as hereditary onycho-osteodystrophy (HOOD) is a rare inherited autosomal dominant disease with involvement of the LMX1 gene. We report a case of NPS with atypical involvement of the lip, palate, and lung and discuss the possible genetic associations between NP...

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Main Authors: Annie Hui Nee Law MB BCh BAO, MRCP(UK), MMED, Li Ching Chew BMed Sci, BMBS, MRCP
Format: Article
Language:English
Published: SAGE Publishing 2013-03-01
Series:Proceedings of Singapore Healthcare
Online Access:https://doi.org/10.1177/201010581302200111
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spelling doaj-7bb0cdf7440c4dc5bca80eb88ee520182020-11-25T03:18:22ZengSAGE PublishingProceedings of Singapore Healthcare2010-10582059-23292013-03-012210.1177/201010581302200111Nail-Patella Syndrome: A Case ReportAnnie Hui Nee Law MB BCh BAO, MRCP(UK), MMEDLi Ching Chew BMed Sci, BMBS, MRCPNail-patella syndrome (NPS), also known as hereditary onycho-osteodystrophy (HOOD) is a rare inherited autosomal dominant disease with involvement of the LMX1 gene. We report a case of NPS with atypical involvement of the lip, palate, and lung and discuss the possible genetic associations between NPS, recurrent pneumothoraces, and cleft lip/palate.https://doi.org/10.1177/201010581302200111
collection DOAJ
language English
format Article
sources DOAJ
author Annie Hui Nee Law MB BCh BAO, MRCP(UK), MMED
Li Ching Chew BMed Sci, BMBS, MRCP
spellingShingle Annie Hui Nee Law MB BCh BAO, MRCP(UK), MMED
Li Ching Chew BMed Sci, BMBS, MRCP
Nail-Patella Syndrome: A Case Report
Proceedings of Singapore Healthcare
author_facet Annie Hui Nee Law MB BCh BAO, MRCP(UK), MMED
Li Ching Chew BMed Sci, BMBS, MRCP
author_sort Annie Hui Nee Law MB BCh BAO, MRCP(UK), MMED
title Nail-Patella Syndrome: A Case Report
title_short Nail-Patella Syndrome: A Case Report
title_full Nail-Patella Syndrome: A Case Report
title_fullStr Nail-Patella Syndrome: A Case Report
title_full_unstemmed Nail-Patella Syndrome: A Case Report
title_sort nail-patella syndrome: a case report
publisher SAGE Publishing
series Proceedings of Singapore Healthcare
issn 2010-1058
2059-2329
publishDate 2013-03-01
description Nail-patella syndrome (NPS), also known as hereditary onycho-osteodystrophy (HOOD) is a rare inherited autosomal dominant disease with involvement of the LMX1 gene. We report a case of NPS with atypical involvement of the lip, palate, and lung and discuss the possible genetic associations between NPS, recurrent pneumothoraces, and cleft lip/palate.
url https://doi.org/10.1177/201010581302200111
work_keys_str_mv AT anniehuineelawmbbchbaomrcpukmmed nailpatellasyndromeacasereport
AT lichingchewbmedscibmbsmrcp nailpatellasyndromeacasereport
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