title: Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy.
abstract: We describe monozygotic twin sisters concordant for Rubinstein-Taybi syndrome diagnosed at the age of 10 weeks. The typical features of Rubinstein-Taybi syndrome in early infancy increasingly developed towards the total "Gestalt" at the age of 2 years and 10 months.
authors.affiliation: Department of Pediatrics, Heinrich Heine Universität Düsseldorf, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Preis
authors.forename: F
authors.initials: F
authors.lastname: Majewski
mesh_terms: D002675:Child, Preschool; D004200:Diseases in Twins; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D014430:Twins, Monozygotic