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...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2010-01-01
|
| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2010/869470 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832556526251802624 |
|---|---|
| author | Samir Haddad Leila Ghedira-Besbes Chahra Bouafsoun Sabeur Hammami Slaheddine Chouchene Chebil Ben Meriem Mohamed-néji Guediche |
| author_facet | Samir Haddad Leila Ghedira-Besbes Chahra Bouafsoun Sabeur Hammami Slaheddine Chouchene Chebil Ben Meriem Mohamed-néji Guediche |
| author_sort | Samir Haddad |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-dd0651b9382f4e769f7abb8372e8f705 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-dd0651b9382f4e769f7abb8372e8f7052025-02-03T05:45:12ZengWileyCase 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 |
| 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 |
| title | 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_short | Nail-Patella Syndrome Associated with Short Stature: A Case Series |
| title_sort | nail patella syndrome associated with short stature a case series |
| url | http://dx.doi.org/10.1155/2010/869470 |
| work_keys_str_mv | AT samirhaddad nailpatellasyndromeassociatedwithshortstatureacaseseries AT leilaghedirabesbes nailpatellasyndromeassociatedwithshortstatureacaseseries AT chahrabouafsoun nailpatellasyndromeassociatedwithshortstatureacaseseries AT sabeurhammami nailpatellasyndromeassociatedwithshortstatureacaseseries AT slaheddinechouchene nailpatellasyndromeassociatedwithshortstatureacaseseries AT chebilbenmeriem nailpatellasyndromeassociatedwithshortstatureacaseseries AT mohamednejiguediche nailpatellasyndromeassociatedwithshortstatureacaseseries |