Nail-Patella Syndrome Associated with Short Stature: A Case Series

Nail-Patella Syndrome Associated with Short Stature: A Case Series

Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who ag...

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Main Authors: Samir Haddad, Leila Ghedira-Besbes, Chahra Bouafsoun, Sabeur Hammami, Slaheddine Chouchene, Chebil Ben Meriem, Mohamed-néji Guediche
Format: Article
Language:English
Published: Hindawi Limited 2010-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2010/869470
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spelling doaj-dd0651b9382f4e769f7abb8372e8f7052020-11-24T22:34:23ZengHindawi LimitedCase Reports in Medicine1687-96271687-96352010-01-01201010.1155/2010/869470869470Nail-Patella Syndrome Associated with Short Stature: A Case SeriesSamir Haddad0Leila Ghedira-Besbes1Chahra Bouafsoun2Sabeur Hammami3Slaheddine Chouchene4Chebil Ben Meriem5Mohamed-néji Guediche6Department of Paediatrics, CHU Fattouma Bourguiba, 5000 Monastir, TunisiaDepartment of Paediatrics, CHU Fattouma Bourguiba, 5000 Monastir, TunisiaDepartment of Paediatrics, CHU Fattouma Bourguiba, 5000 Monastir, TunisiaDepartment of Paediatrics, CHU Fattouma Bourguiba, 5000 Monastir, TunisiaDepartment of Paediatrics, CHU Fattouma Bourguiba, 5000 Monastir, TunisiaDepartment of Paediatrics, CHU Fattouma Bourguiba, 5000 Monastir, TunisiaDepartment of Paediatrics, CHU Fattouma Bourguiba, 5000 Monastir, TunisiaIntroduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They are admitted to explore short stature. The initial clinical examination and radiologic findings confirmed the diagnosis of Nail-patella syndrome. Conclusion. Skeletal, ophthalmologic, and renal involvements were mostly associated with NPS. The association with short stature was exceptional.http://dx.doi.org/10.1155/2010/869470
collection DOAJ
language English
format Article
sources DOAJ
author Samir Haddad
Leila Ghedira-Besbes
Chahra Bouafsoun
Sabeur Hammami
Slaheddine Chouchene
Chebil Ben Meriem
Mohamed-néji Guediche
spellingShingle Samir Haddad
Leila Ghedira-Besbes
Chahra Bouafsoun
Sabeur Hammami
Slaheddine Chouchene
Chebil Ben Meriem
Mohamed-néji Guediche
Nail-Patella Syndrome Associated with Short Stature: A Case Series
Case Reports in Medicine
author_facet Samir Haddad
Leila Ghedira-Besbes
Chahra Bouafsoun
Sabeur Hammami
Slaheddine Chouchene
Chebil Ben Meriem
Mohamed-néji Guediche
author_sort Samir Haddad
title Nail-Patella Syndrome Associated with Short Stature: A Case Series
title_short Nail-Patella Syndrome Associated with Short Stature: A Case Series
title_full Nail-Patella Syndrome Associated with Short Stature: A Case Series
title_fullStr Nail-Patella Syndrome Associated with Short Stature: A Case Series
title_full_unstemmed Nail-Patella Syndrome Associated with Short Stature: A Case Series
title_sort nail-patella syndrome associated with short stature: a case series
publisher Hindawi Limited
series Case Reports in Medicine
issn 1687-9627
1687-9635
publishDate 2010-01-01
description Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They are admitted to explore short stature. The initial clinical examination and radiologic findings confirmed the diagnosis of Nail-patella syndrome. Conclusion. Skeletal, ophthalmologic, and renal involvements were mostly associated with NPS. The association with short stature was exceptional.
url http://dx.doi.org/10.1155/2010/869470
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AT leilaghedirabesbes nailpatellasyndromeassociatedwithshortstatureacaseseries
AT chahrabouafsoun nailpatellasyndromeassociatedwithshortstatureacaseseries
AT sabeurhammami nailpatellasyndromeassociatedwithshortstatureacaseseries
AT slaheddinechouchene nailpatellasyndromeassociatedwithshortstatureacaseseries
AT chebilbenmeriem nailpatellasyndromeassociatedwithshortstatureacaseseries
AT mohamednejiguediche nailpatellasyndromeassociatedwithshortstatureacaseseries
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