title: Ambras syndrome: report on two affected siblings with no prior family history.
abstract: We report two siblings with congenital generalized hypertrichosis and distinctive facial appearance consistent with the dysmorphic facial features described in Ambras syndrome. The patients were born to non-consanguineous, phenotypically normal parents. This is the first report of affected siblings and could be explained by either autosomal recessive inheritance or by germline mosaicism for an autosomal dominant gene. We compared the phenotype of our patients to descriptions of reported cases and discuss phenotypic variability.
authors.affiliation: Department of Medical Genetics, University of Medicine and Pharmacy, Timişoara, Romania Department of Pediatrics, County Hospital, Timişoara, Romania Department of Cell and Molecular Biology, University of Medicine and Pharmacy, Timişoara, Romania.
authors.forename: Valerica
authors.initials: V
authors.lastname: Belengeanu
authors.forename: Kinga
authors.initials: K
authors.lastname: Rozsnyai
authors.forename: Cristina
authors.initials: C
authors.lastname: Gug
authors.forename: Mariana
authors.initials: M
authors.lastname: Bănăţeanu
authors.forename: Simona
authors.initials: S
authors.lastname: Farcaş
authors.forename: Alina
authors.initials: A
authors.lastname: Belengeanu
mesh_terms: D002675:Child, Preschool; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics / Q000503:physiopathology*; D007223:Infant