Article
Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?
Genetic counseling (Geneva, Switzerland) - 1 Jan 2005
Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns J P
Abstract excerpt
Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?: We report a Romanian family with a dysmorphic syndrome in three generations: a boy, his mother and maternal grandfather, who all presented with the typical facial appearance, characteristic skeletal and dermatoglyphic findings of Kabuki syndrome, but no mental retardation, short stature and visceral abnormalities. The phenotype...
Topics
- Abnormalities, Multiple
- Adult
- Bone Diseases, Developmental
- Child
- Chromosome Aberrations
- Craniofacial Abnormalities
- Dermatoglyphics
- Diagnosis, Differential
- Dwarfism
- Facies
- Female