Document Detail


Dominant inheritance of cleft palate with minor abnormalities of hands and feet: a new syndrome?
MedLine Citation:
PMID:  10457853     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a family in which four members of three generations are affected by median cleft palate. The proband and her mother have additional features including bilateral single transverse palmar creases, broad great toes and hypoplastic fifth toenails. Dominant isolated cleft palate has rarely been reported, and there are no previous reports of dominant cleft palate with these associated features. We believe that this represents a previously unreported syndrome, which needs to be considered when assessing recurrence risk for cleft palate.
Authors:
E P Kirk; M Wilson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  8     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1999 Jul 
Date Detail:
Created Date:  1999-09-22     Completed Date:  1999-09-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  193-7     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, New Children's Hospital, Westmead NSW, Australia.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child, Preschool
Cleft Palate / genetics*
Female
Foot Deformities, Congenital / pathology*
Hand Deformities, Congenital / pathology*
Humans
Male
Pedigree
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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