title: [Oro-facial-digital syndrome type I: phenotypic variable expression].
abstract: Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is a developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. It is associated with malformation of the oral cavity, face, and digits. Furthermore, it is characterized by the presence of milia, hypotrichosis and polycystic kidney disease. We present two cases with clinical diagnosis of oral-facial-digital syndrome type I with some phenotypic variability between them.
authors.affiliation: Dermatología, Hospital San Roque.
authors.forename: María Pía
authors.initials: MP
authors.lastname: Boldrini
authors.affiliation: Dermatología, Hospital de Niños Santísima Trinidad.
authors.forename: María Elsa
authors.initials: ME
authors.lastname: Giovo
authors.affiliation: Genética Médica, Hospital Materno Neonatal, Córdoba, Argentina.
authors.forename: Claudia
authors.initials: C
authors.lastname: Bogado
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009958:Orofaciodigital Syndromes / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*