title: Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume.
abstract: A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms. She also had diffuse, nonscarring alopecia with wiry, dry hair. Results of roentgenographic and ultrasound studies were normal. At her present age of 11 months, her psychomotor development is appropriate for her age.
authors.affiliation: Section of Pediatric Dermatology, Hospital José María Ramos Mejía, Buenos Aires, Argentina.
authors.forename: M
authors.initials: M
authors.lastname: Larralde de Luna
authors.forename: M L
authors.initials: ML
authors.lastname: Raspa
authors.forename: J
authors.initials: J
authors.lastname: Ibargoyen
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009958:Orofaciodigital Syndromes / Q000150:complications / Q000175:diagnosis*; D012871:Skin Diseases / Q000209:etiology / Q000473:pathology*