Hereditary osteo-onychodysplasia or nail-patella syndrome: description of one case and literature review
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 pel...
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| Veröffentlicht in: | Journal of orthopaedics and traumatology 2005-06, Vol.6 (2), p.105-109 |
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| container_title | Journal of orthopaedics and traumatology |
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| creator | Lazzeri, S. Nori, G. Matocci, G. P. Di Filippo, P. |
| description | 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.[PUBLICATION ABSTRACT] |
| doi_str_mv | 10.1007/s10195-005-0092-7 |
| format | Article |
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| subjects | Mutation |
| title | Hereditary osteo-onychodysplasia or nail-patella syndrome: description of one case and literature review |
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