Camptodactyly Arthropathy CoxaVara Pericarditis Syndrome: Early diagnosis prevents unnecessary and harmful treatment

Autor: Ibrahim Halil Kafadar, Nadia El Ameen, Mohamed Hashem M Mahgoob
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