title: Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.
abstract: Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia.
authors.affiliation: Service of Maxillo-Facial Surgery, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Broome
authors.affiliation: Department of Obstetrics and Gynecology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: Y
authors.initials: Y
authors.lastname: Vial
authors.affiliation: Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: S
authors.initials: S
authors.lastname: Jacquemont
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: C
authors.initials: C
authors.lastname: Sergi
authors.affiliation: Department of Pediatrics, Laval University, Quebec City, Quebec, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Kamnasaran
authors.affiliation: Service of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. Electronic address: Eric.Giannoni@chuv.ch.
authors.forename: E
authors.initials: E
authors.lastname: Giannoni
mesh_terms: D000015:Abnormalities, Multiple / Q000601:surgery*; D002972:Cleft Palate / Q000601:surgery*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D008437:Maxilla / Q000002:abnormalities*; D013580:Synostosis / Q000601:surgery*; D015050:Zygoma / Q000002:abnormalities*
keywords: choanal atresia; maxillo-mandibular fusion; newborn; syngnathia; synostosis