Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
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منابع مشابه
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
BACKGROUND Camptodactyly-arthropathy-coxa vara-pericarditis (CACP, OMIM: #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise not only because of its wide clinical variability but also because of its clinical resemblance to juvenile idiopathic arthritis (JIA). PRG4 is the only gene so far known to be associated with CACP syndrome. Children with CACP syndrom...
متن کاملCamptodactyly, Arthropathy, Coxa vara, Pericarditis (CACP)Syndrome: A Case Report
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is characterized by congenital or early-onset camptodactyly, childhood-onset noninflammatory arthropathy associated with synovial hyperplasia. Some patients have progressive coxa vara deformity and/or noninflammatory pericardial effusion. CACP is inherited as an autosomal recessive mode and the disease gene is assigned to a 1....
متن کاملCACP syndrome (Camptodactyly Arthropathy Coxa Vara Pericarditis). Clinical case
Case Report Our patient, a 6 year old girl was diagnosed with the CACP syndrome at the age of 30 months. Her parents were negative for consanguinity. As an infant the patient was diagnosed with camptodactyly. At the age of 18 months frequent swelling of the knee was observed. Examination by rheumatologist confirmed the presence of swelling to elbows, wrists, knees, and ankles, without limitatio...
متن کاملSpinal involvement in Camptodactyly Arthropathy Coxa-vara Pericarditis (CACP) syndrome in two Yemeni sisters
Aim of the work: The objective of this clinical report is to describe the detailed magnetic resonance imaging (MRI) findings of the spine, knee and hip joints in two young sisters with Camptodactyly Arthropathy Coxa-vara Pericarditis (CACP) syndrome. Cases report: In two young sisters, both had normal levels of inflammatory markers and typical features of the CACP syndrome with camptodactyly, s...
متن کاملPathognomonic acetabular cysts in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
outpatient department of Osmania General Hospital, Hyderabad, India, in January 2014 with a complaint of pain, bilateral swellings of the knee and ankle joints and difficulty squatting and sitting cross-legged (Fig. 1a, b, c). On examination, there was synovial thickening of knee joints. There was no clinical evidence of pericarditis. Echocardiogram was normal. Laboratory results for inflammato...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2016
ISSN: 1546-0096
DOI: 10.1186/s12969-016-0093-5