Hereditary osteo-onychodysplasia or nail-patella syndrome: description of one case and literature review
Autor: | P. Di Filippo, G. Nori, S. Lazzeri, G. P. Matocci |
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Rok vydání: | 2005 |
Předmět: |
musculoskeletal diseases
medicine.medical_specialty Iliac horns integumentary system business.industry Radial head Anatomy musculoskeletal system medicine.disease Surgery medicine.anatomical_structure Hereditary osteo-onychodysplasia Orthopedic surgery Nephrotic proteinuria medicine Nail (anatomy) Orthopedics and Sports Medicine business Pelvis Nail patella syndrome |
Zdroj: | Journal of Orthopaedics and Traumatology. 6:105-109 |
ISSN: | 1590-9999 1590-9921 |
DOI: | 10.1007/s10195-005-0092-7 |
Popis: | Hereditary osteoonychodysplasia (HOOD) or nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by abnormal nail development and growth with hypoplastic highriding or absent patellae. Congenital dislocation of the radial head and bony deformities particularly around the pelvis (iliac horns) are also features. Occasionally renal dysfunction and proteinuria may be present. We report a case of nail-patella syndrome and review the literature of this rare hereditary condition. |
Databáze: | OpenAIRE |
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