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

Balci, S.; Yigitkanli, I.

Genetic Counseling 15(4): 463-468

2004

ISSN/ISBN: 1015-8146
PMID: 15658623
Document Number: 584354
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.

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