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

Balci S., Yigitkanli I.

GENETIC COUNSELING, cilt.15, sa.4, ss.463-468, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 4
  • Basım Tarihi: 2004
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.463-468
  • Hacettepe Üniversitesi Adresli: Hayır

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.