Document Detail


Craniofrontonasal dysplasia: more severe expression in the mother than in her son.
MedLine Citation:
PMID:  8775424     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Craniofrontonasal dysplasia: more severe expression in the mother than in her son: We report a family with craniofrontonasal dysplasia in a mother and her son. In addition to the typical clinical features, the present case report further illustrates two sofar unexplained observations in craniofrontonasal dysplasia: a more severe clinical expression in females and an increased incidence of miscarriages.
Authors:
K Devriendt; C Van Mol; J P Fryns
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  6     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  1995  
Date Detail:
Created Date:  1996-10-17     Completed Date:  1996-10-17     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  361-4     Citation Subset:  IM    
Affiliation:
Center for Human Genetics, University of Leuven, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Child, Preschool
Facial Bones / abnormalities*
Female
Genetic Counseling*
Heterozygote Detection*
Humans
Male
Mental Retardation / genetics
Nose / abnormalities*
Phenotype
Skull / abnormalities*

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


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