Spondylo-costal dysostosis with Sprengel’s shoulder –Report of a new association with Jarcho-Levin syndrome

Vijayan, Sandeep and Shah, Hitesh (2012) Spondylo-costal dysostosis with Sprengel’s shoulder –Report of a new association with Jarcho-Levin syndrome. Kerala Journal of Orthopaedics , 25 (2). pp. 103-104.

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Abstract

Jarcho-Levin syndrome is a genetic disorder characterized by segmentation defects of spine and rib anomalies. Here we are reporting the association of Sprengels shoulder with this syndrome, the first ever to the best of our knowledge. Eventhough, this subtype is less life threatening, regular monitoring of growth, respiratory function and spinal deformity is absolutely essential. Identification of the mutant alleles helps to provide genetic counselling in future pregnancies.

Item Type: Article
Uncontrolled Keywords: Scoliosis; rib anomalies; costovertebral; Sprengel; segmentation defects.
Subjects: Medicine > KMC Manipal > Orthopaedics
Depositing User: KMC Manipal
Date Deposited: 12 Sep 2013 04:12
Last Modified: 12 Sep 2013 04:12
URI: http://eprints.manipal.edu/id/eprint/137131

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