Craniofrontonasal dysplasia: more severe expression in the mother than in her son

K Devriendt; C Van Mol; J P Fryns

Craniofrontonasal dysplasia: more severe expression in the mother than in her son

Genet Couns. 1995;6(4):361-4.

Authors

K Devriendt¹, C Van Mol, J P Fryns

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 8775424

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Child, Preschool
Facial Bones / abnormalities*
Female
Genetic Carrier Screening*
Genetic Counseling*
Humans
Intellectual Disability / genetics
Male
Nose / abnormalities*
Phenotype
Skull / abnormalities*