title: Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature.
abstract: We report on a 2-year-old boy presenting the cardinal features of the Kabuky syndrome i.e. peculiar face, short stature moderate mental retardation, padded fingers, padded toes and shawl scrotum. Karyotype was 46, XY. Fish tests for microdeletion: 22q11 and 16q (Rubinstein Tayby) were normal.
authors.affiliation: Department of Human Genetics, Institute of Endocrinology, Bucharest, Roumania.
authors.forename: D M
authors.initials: DM
authors.lastname: Ioan
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology*; D001991:Bronchitis; D002675:Child, Preschool; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities; D005145:Face / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities