Spondylocostal dysostosis: follow-up of two cases

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


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.



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


System under maintenance

Migration of the OJS system to version 3.0. During this period users:

  • Will be able only to access the content already published
  • The editorial flow will not be able (submission, evaluation, publication)

Available in: 06/07/2020

e-ISSN: 1980-6108 | ISSN-L: 1806-5562

Except where otherwise specified, material published in this journal is licensed under a Creative Commons Attribution 4.0 International license, which allows unrestricted use, distribution and reproduction in any medium, provided the original publication is correctly cited.