Year: 2024
Type: article
Study design: Case Report
Abstract: Spondylocostal dysplasia (SCD) also known as Jarcho-Levin syndrome (JLS) is an autosomal recessive disorder manifested by malformations of the ribs and vertebrae.In severe cases, neonates may present with respiratory distress due to severe kyphoscoliosis and reduced thoracic capacity, although milder cases may have only cosmetic abnormalities.We herein present a 2-month-old male infant who had features suggestive of JLS and had associated polythelia which can be added to the spectrum of associated congenital phenotypic abnormalities.
Authors: Paridhi Gupta, Pooja Dewan, Deepika Harit, Mukesh Yadav, K Jai Kumar
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W7128739868
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