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Spondylocostal Dysostosis Type 2
Autosomal Recessive Spondylocostal Dysostosis

Presentation

Here, we would like to present a case of SCDO with associated Sprengel deformity, which has been reported only twice previously (to the best of our knowledge). Downloads Download data is not yet available. References 1. [pediatrics.medresearch.in]

Musculoskeletal

  • Short Trunk

    A dominantly inherited form of short-trunked dwarfism. Am J Med. 1968;45:948–53. [PubMed: 5722643] Sandbacka M, Laivuori H, Freitas É, Halttunen M, Jokimaa V, Morin-Papunen L, Rosenberg C, Aittomäki K. [ncbi.nlm.nih.gov]

Urogenital

  • Primary Amenorrhea

    Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study. J Clin Endocrinol Metab. 2008;93:895–900. [ncbi.nlm.nih.gov]

Treatment

Clinical evaluations of the treatment of congenital scoliosis. Orthop Surg & Trauma. 1996;39:55–62. Aurora P, Wallis CE, Winter RM. The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. [ncbi.nlm.nih.gov]

Etiology

A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell. 2012;149:295–306. [PubMed: 22484060] Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL. [ncbi.nlm.nih.gov]

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