Abnormalities may be related defective somitogenesis: Multiple vertebral segmentation defects and neural tube defects

Odaci E., Yıldıran A., KÜÇÜKÖDÜK Ş., Çiftçi N.

Ondokuz Mayis Universitesi Tip Dergisi, vol.18, no.3, pp.216-224, 2001 (Scopus) identifier

  • Publication Type: Article / Review
  • Volume: 18 Issue: 3
  • Publication Date: 2001
  • Journal Name: Ondokuz Mayis Universitesi Tip Dergisi
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.216-224
  • Keywords: Embryonic induction, Multiple vertebral segmentation defects, Neural tube defects
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

Multiple vertebral segmentation defects (MVSD) (MIM#277300) including hemi vertebrae, fused or absent ribs, and "crab-like" thorax has been reported under various names such as spondylothoracic dysplasia, spondylocostal dysostosis, Jarcho-Levin Syndrome and others. Many different genetic mutations reported in order to explain these defects. But the manifestation of MVSD are various and complex, so these mutation couldn't be satisfactory. Then, how can it be explained this maldevelopment? As a consequence of their segmented arrangement and the diversity of their tissue derivatives, somites are key elements in the establishment of the metameric body plan in vertebrates; probably. disregulation of somite differentiation and proliferation may disclose the problem. We conclude that defective somitogenesis should be investigated carefully to explain related clinical abnormalities.