Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 64, Issue 4, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.ejmg.2021.104185
Keywords
Genetic disorders; Musculoskeletal symptoms; Genetic syndromes
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The study examined genetic diagnoses in patients presenting with musculoskeletal complaints to the rheumatology department, finding that a significant proportion of cases were due to genetic disorders. It highlights the importance of considering genetic factors in the differential diagnosis of musculoskeletal symptoms in pediatric rheumatology patients.
Musculoskeletal symptoms may be due to noninflammatory causes, including genetic disorders. We aimed to examine the final genetic diagnosis in patients who presented with musculoskeletal complaints to the rheumatology department. Patients who presented to the Department of Pediatric Rheumatology and were referred to the pediatric genetic department between January 2015 and May 2019 were evaluated retrospectively. A total of 60 patients, 19 boys (31.66%), with a mean age of 12.46 +/- 1.41 years were included in the study. The total consanguinity rate was 25%. The most common (29.5%) cause of referral to the pediatric genetic department was the presence of skeletal anomalies (such as camptodactyly, clinodactyly, and short stature) with accompanying joint findings. Approximately one-third of the patients (n: 19) were diagnosed and followed up by the pediatric genetics department. The diagnoses of patients were as follows: camptodactyly, arthmpathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalangeal syndrome (n: 1); progressive pseudorheumatoid dysplasia (n: 2); LIG4 syndrome (n: 1); H syndrome (n: 1); spondyloenchondrodysplasia (SPENCD) (n: 3); and nonspecific connective tissue disorders (n: 8). In the differential diagnosis of patients who are referred to the Department of Pediatric Rheumatology with complaints of the musculoskeletal system, genetic disorders should also be considered.
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