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


Balci S., Yigitkanli I.

GENETIC COUNSELING, cilt.15, ss.463-468, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 15 Konu: 4
  • Basım Tarihi: 2004
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.463-468

Özet

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.