title: Agnathia (severe micrognathia), aglossia and choanal atresia in an infant.
abstract: A neonate is reported here, who was born with severe mandibular hypoplasia, complete absence of the tongue, unilateral choanal atresia, contralateral choanal stenosis and developed severe airway obstruction at birth. Arrested development of the ventral first branchial arch most likely underlies the clinical deficits. Most reported cases of agnathia have been lethal but the infant reported here has survived into infancy with a tracheostomy and feeding gastrostomy. Her clinical features, assessment and management are discussed.
authors.affiliation: Department of Paediatrics, John Hunter Hospital, Newcastle, New South Wales, Australia.
authors.forename: P J
authors.initials: PJ
authors.lastname: Walker
authors.forename: M J
authors.initials: MJ
authors.lastname: Edwards
authors.forename: V
authors.initials: V
authors.lastname: Petroff
authors.forename: I
authors.initials: I
authors.lastname: Wilson
authors.forename: A D
authors.initials: AD
authors.lastname: Temperley
authors.forename: J
authors.initials: J
authors.lastname: Seabrook
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000473:pathology / Q000601:surgery; D002754:Choanal Atresia / Q000196:embryology / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008844:Micrognathism / Q000196:embryology / Q000473:pathology; D014059:Tongue / Q000002:abnormalities* / Q000196:embryology; D014139:Tracheostomy