Document Detail

Complex facio-audio-symphalangism syndrome. An autosomal recessive type?
MedLine Citation:
PMID:  15658623     Owner:  NLM     Status:  MEDLINE    
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.
S Balci; I Yigitkanli
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  15     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2004  
Date Detail:
Created Date:  2005-01-20     Completed Date:  2005-04-21     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  463-8     Citation Subset:  IM    
Department of Pedatries, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
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MeSH Terms
Chromosome Aberrations*
Face / abnormalities*
Fingers / abnormalities*,  radiography
Foot Deformities, Congenital / genetics*,  radiography
Genes, Recessive*
Hand / radiography
Hearing Loss, Conductive / genetics*
Mental Retardation / genetics

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