Presentation
A mild kyphoscoliosis is often present. [radiopaedia.org]
The spine and rib abnormalities, which are present from birth, cause other signs and symptoms of spondylocostal dysostosis. [medlineplus.gov]
Musculoskeletal
- Short Trunk
Spondylocostal dysostosis is characterized by a short-trunk dwarfism phenotype (normal length upper and lower limbs with a disproportionately-reduced size central body and short neck) due to maldevelopment of the vertebrae and ribs. [radiopaedia.org]
Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism. [medlineplus.gov]
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]
Treatment
Treatment and prognosis The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. Some rare variants with survival into adulthood have also been described. [radiopaedia.org]
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]
Prognosis
Treatment and prognosis The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. Some rare variants with survival into adulthood have also been described. [radiopaedia.org]
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]