title: Complex facio-audio-symphalangism syndrome. An autosomal recessive type?
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.
authors.affiliation: Department of Pedatries, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey. inciy@hacettepe.edu.tr
authors.forename: S
authors.initials: S
authors.lastname: Balci
authors.forename: I
authors.initials: I
authors.lastname: Yigitkanli
mesh_terms: D000328:Adult; D000886:Anthropometry; D002869:Chromosome Aberrations; D003241:Consanguinity; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D005808:Genes, Recessive; D006225:Hand / Q000000981:diagnostic imaging; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D011859:Radiography; D013577:Syndrome