| CASE REPORT |
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| Year : 2021 | Volume
: 28
| Issue : 1 | Page : 55-58 |
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A case report of Jarcho–Levin syndrome
Bhamidipaty K Durgaprasad1, Sonica Sharma1, Payala Vijayalakshmi2
1 Department of Radio Diagnosis, GITAM Institute of Medical Sciences and Research (GIMSR), Visakhapatnam, Andhra Pradesh, India
2 Department of Microbiology, GITAM Institute of Medical Sciences and Research (GIMSR), Visakhapatnam, Andhra Pradesh, India
Correspondence Address:
Dr. Sonica Sharma
Department of Radiodiagnosis, GITAM Institute of Medical Sciences and Research, GITAM (Deemed to be University), Visakhapatnam - 530 045, Andhra Pradesh
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jfcm.JFCM_303_20
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Jarcho–Levin syndrome (JLS) is a rare, congenital disorder, inherited in an autosomal recessive pattern, that represents a spectrum of clinical and radiographic abnormalities of the spine and chest. The present case report discusses two siblings, an 11 year old girl and a 6 year old boy, diagnosed as cases of JLS based on family history and clinical-radiological findings. The main features of the syndrome are shortness of stature with a spinal abnormality, multiple abnormal vertebral defects, and a small malformed “fan-like” or “crab-like” rib cage due to posterior fusion and anterior flaring of the ribs, leading to short-trunk dwarfism. The spinal and rib malformations result in a small thoracic cavity, not capable of accommodating the growing lungs, causing thoracic insufficiency resulting in severe cardiac and respiratory complications and frequent chest infections. The diagnosis is based on clinical and radiological findings, characteristic physical appearance, symptoms of thoracic insufficiency, family history, consanguineous parents, skeletal survey, or specialized genetic tests for mutations. Milder forms are compatible with life. |
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