Kniest dysplasia in girl aged 4 years: a case report

Keywords: Kniest dysplasia, short limbs, epiphyseal enlargement

Abstract

Kniest dysplasia is a rare chondrodysplasia characterized by distinct musculoskeletal and craniofacial abnormalities. Additional features like hearing loss and some ocular abnormalities can also be present.  We report a case of Kniest dysplasia from eastern India with a rare mutation confirmed by genetic testing. A 4-year-old girl presented with skeletal deformities with normal intelligence. On examination, she had dysmorphism, short stature, barrel-shaped chest, scoliosis, short limbs with enlarged joints, and dental problems. The skeletal survey showed platyspondyly, epiphyseal enlargement, and a hypoplastic femoral head with cloud-like calcification. Clinical suspicion of Kniest dysplasia was kept based on characteristic skeletal abnormalities and radiological findings. The diagnosis was confirmed by genetic analysis, which revealed a mutation in the COL2A1 gene (c.905C>T) on chromosome 12 exon 14.

Author Biographies

Ipsita Sahoo, MD Pediatrics

Assistant Professor, Department of Pediatrics, Institute of Medical Science and SUM Hospital, Bhubaneswar, Odisha

Nitish Jena, DNB Pediatrics

Senior resident, Department of Pediatrics, Institute of Medical Science and SUM Hospital, Bhubaneswar, Odisha

Mrutunjay Dash

Professor, Department of Pediatrics, Institute of Medical Sciences and SUM Hospital, Bhubaneswar, Odisha

Swarup Bisoi

Professor, Department of Pediatrics, Institute of Medical Sciences and SUM Hospital, Bhubaneswar, Odisha

References

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Published
2024-11-06
How to Cite
1.
Sahoo I, Jena N, Dash M, Bisoi S. Kniest dysplasia in girl aged 4 years: a case report. PI [Internet]. 6Nov.2024 [cited 21Dec.2024];64(6). Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3241
Issue
Vol 64 No 6 (2024): November 2024
Section
Case Report

Copyright (c) 2024 Ipsita Sahoo, Nitish Jena, Mrutunjay Dash, Swarup Bisoi

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Received 2022-11-17
Accepted 2024-11-06
Published 2024-11-06