JARCHO-LEVIN SYNDROME PRESENTING WITH SEVERE HYDROCEPHALUS: A REPORT OF THREE CASES


Yurttutan S., Degirmencioglu H., Oncel M. Y. , Kara S., Sari F., Dilmen U.

GENETIC COUNSELING, vol.24, no.4, pp.361-366, 2013 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 4
  • Publication Date: 2013
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.361-366

Abstract

Jarcho-Levin syndrome presenting with severe hydrocephalus: a report of three cases: Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by defects of spine formation, abnormal fusion of the ribs at the costovertebral and costochondral junction due to abnormal vertebral and costal segmentation. There are two subtypes associated with different distribution and severity of defects in JLS. While vertebral segmentation abnormalities are frequent in spondylo-thoracic subtype costal segmentation and fusion abnormalities are frequent in spondylo-costal subtype. Neural tube defects with severe hydrocephalus are rare findings in this syndrome. Herein we report three infants with severe hydrocephalus associated with Jarcho-Levin syndrome.