Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations


ASLAN Y. , Erduran E. , MOCAN H., YILDIRAN A., OKTEN A. N. , GEDIK Y.

GENETIC COUNSELING, vol.8, no.3, pp.241-248, 1997 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 3
  • Publication Date: 1997
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.241-248

Abstract

Multiple vertebral segmentation defects. Brief report of three patients and nosological consideration: Multiple vertebral segmentation defects i.e. multiple malformations of vertebrae and ribs are characterized by short neck, scoliosis, short trunk and deformity of the ribcage. There are three major subtypes; Jarcho-Levin syndrome, spondylothoracic dysostosis and spondylocostal dysostosis, with different inheritance patterns, survival rates and associated malformations. We describe three cases of multiple vertebral segmentation defects, two with familial spondylothoracic dysostosis and one with sporadic spondylothoracic dysostosis, and anomalies i.e. supernumerary breast, clubfeet deformity, myelomeningocele, intradural lipoma, and Arnold-Chiari malformation.