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...

Full description

Bibliographic Details
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
Description
Summary: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.
ISSN:2010-1058
2059-2329

Similar Items