Year: 2024
Type: article
Study design: Case Report
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.
Source: Paediatrica Indonesiana
Institution: Institute of Medical Sciences and Sum Hospital
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4406000498