title: Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.
abstract: The oral-facial-digital syndromes (OFDS) comprise a group of disorders involving malformations of the mouth, face, and digits. There are 13 subtypes of the OFDS, and much overlap exists among OFDS patients. Distinct syndromes such as Joubert and Pallister-Hall display many of the same features. This report describes an infant with abnormalities including a hypoplastic/absent cerebellar vermis and forked third metacarpals, consistent with a diagnosis of OFDS type VI (Váradi-Papp). The girl's abnormalities also included malformations of the larynx and trachea, findings never before described in type VI but described in other OFDS subtypes and similar syndromes. Our patient represents a transitional OFDS type, further supporting evidence of a common molecular pathway among these disorders. This report highlights the importance of the radiologist's role in diagnosis.
authors.affiliation: Department of Pediatric Radiology, Children's Healthcare of Atlanta at Scottish Rite, 1001 Johnson Ferry Road NE, Atlanta, GA 30342-1600, USA. laura.hayes@choa.org
authors.forename: Laura L
authors.initials: LL
authors.lastname: Hayes
authors.forename: Stephen F
authors.initials: SF
authors.lastname: Simoneaux
authors.forename: Susan
authors.initials: S
authors.lastname: Palasis
authors.forename: Dmitriy M
authors.initials: DM
authors.lastname: Niyazov
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities*; D008279:Magnetic Resonance Imaging; D009958:Orofaciodigital Syndromes / Q000175:diagnosis*; D014132:Trachea / Q000002:abnormalities*