Camptodactyly Arthropathy CoxaVara Pericarditis Syndrome: Early diagnosis prevents unnecessary and harmful treatment
Autor: | Ibrahim Halil Kafadar, Nadia El Ameen, Mohamed Hashem M Mahgoob |
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Rok vydání: | 2017 |
Předmět: | |
Zdroj: | Open Journal of Orthopedics and Rheumatology. 2:012-014 |
ISSN: | 2641-3116 |
DOI: | 10.17352/ojor.000008 |
Popis: | Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a genetic disorder caused by mutation in the Proteoglyacn PRG4 gene on chromosome 1. The syndrome is characterized by congenital or early onset camptodactyly and childhood-onset of non-infl ammatory arthropathy, coxa vara deformity, or other dysplasia associated with progressive hip disease and non-infl ammatory pericardial effusion. |
Databáze: | OpenAIRE |
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