Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?
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 observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition. This report provides a further evidence for autosomal dominant transmission of the disorder.
Belengeanu
V
V
Department of Medical Genetics, University of Medicine and Pharmacy, Piata Eftimie Murgu 2, Timisoara, Romania. belvtim@yahoo.com
Rozsnyai
K
K
Farcaş
S
S
Velea
I
I
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003878:Dermatoglyphics; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000235:genetics*; D019066:Facies; D005260:Female; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D013577:Syndrome