title: Craniofrontonasal dysplasia: more severe expression in the mother than in her son.
abstract: 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.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: C
authors.initials: C
authors.lastname: Van Mol
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*