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]
Cardiovascular
- Heart Disease
Congenital heart disease in spondylothoracic dysostosis: two familial cases. J Med Genet. 1995;32:633–5. [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]