Nail-Patella Syndrome Associated with Short Stature: A Case Series
| Autor: | S. Haddad, Slaheddine Chouchene, M.N. Guediche, Chebil Ben Meriem, Leila Ghedira-Besbes, S. Hammami, Chahra Bouafsoun |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Pediatrics
medicine.medical_specialty medicine.diagnostic_test business.industry lcsh:R Genetic disorder lcsh:Medicine Physical examination Case Report General Medicine Case presentation medicine.disease Short stature medicine.anatomical_structure medicine Nail (anatomy) medicine.symptom business Nail patella syndrome |
| Zdroj: | Case Reports in Medicine Case Reports in Medicine, Vol 2010 (2010) |
| ISSN: | 1687-9635 1687-9627 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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