Complex facio-audio-symphalangism syndrome. An autosomal recessive type?


Balci S., Yigitkanli I.

GENETIC COUNSELING, vol.15, no.4, pp.463-468, 2004 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 4
  • Publication Date: 2004
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.463-468

Abstract

Complex facio-audio-symphalangism syndrome. an autosomal recessive type?: This report describes a new case of facio-audio-symphalangism syndrome in a 32-year-old female patient from a consanguineous family She had a severely mentally retarded and anophthalmic sister. These associations might be coincidental or demonstrate genetic heterogeneity in this syndrome. We note the diagnostic features of the case. discuss the novel association with consanguinity and highlight the possible heterogeneity of the facio-audio symphalangism syndrome.