Spondylocostal Dysostosis: A Case Report

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.

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Publication Details

Published
2024-12-01
DOI
https://doi.org/10.5005/ujms-11060-02_04_07
Primary Topic
Spine and Intervertebral Disc Pathology
Type
article
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article

Spondylocostal Dysostosis: A Case Report

Paridhi Gupta, Dr Deepika Harit, Pooja Dewan, Mukesh Kumar Yadav et al.
Spine and Intervertebral Disc Pathology
article

Spondylocostal Dysostosis: A Case Report

Paridhi Gupta, Dr Deepika Harit, Pooja Dewan, Mukesh Kumar Yadav, K. Sampath Kumar Kumar
article en

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.

Vol. 2(4)
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Spine and Intervertebral Disc Pathology
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Spondylocostal Dysostosis: A Case Report — Paridhi Gupta, Dr Deepika Harit, et al. · (2024) | TGRS Research Map | TGRS