Spondylocostal dysostosis: follow-up of two cases

Mariana Machado Monteiro da Costa, Filipa Raposo, Marina Pinheiro, Emília Monteiro

Abstract


AIMS: To report two cases of spondylocostal dysostosis, describing their clinical presentation and evolution.

CASES DESCRIPTION: Two non-related cases of spondylocostal dysostosis are reported. The first case consists of an 11 years old boy, and the second case is a girl with four years of age. In both cases, short neck and trunk, scoliosis, rib and sacrococcygeal anomalies were evident at birth. The clinical diagnosis of spondylocostal dysostosis was confirmed by the finding of a mutation in both alleles of the DLL3 gene. Their clinical evolution was satisfactory, with no respiratory complications until this report.

CONCLUSIONS: The spondylocostal dysostosis are a group of disorders characterized by severe skeletal malformations, with rib anomalies such as broadening, bifurcation and no symmetric fusion. Although it is known to be a rare situation, its exact incidence or prevalence is not well established. An early diagnosis and appropriate management are extremely important for adequate family counseling and follow-up.

Keywords


SPONDYLOCOSTAL DYSOSTOSIS; SHORT TRUNK; RIBS; BODY STATURE; GENETIC DISEASES, INBORN.



DOI: http://dx.doi.org/10.15448/1980-6108.2014.1.15926

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