Agnathia (severe microghathia), 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.

Transmission of the dysgnathia complex from mother to daughter

“…Additionally, there have been reports of dysgnathia in association with absent pituitary and adrenals, kidney anomalies, cardiac anomalies, ocular malformations, etc. [Brown and Marsh, 1990;Dao et al, 1988;LeMaitre et al, 1982;Peiffer et al, 1992;Walker et al, 1995].…”

“…Only 17 cases of non-syndromal dysgnathia have been published since 1961 [Bixler et al, 1985;Black et al, 1973;Brecht and Johnson, 1985;Hinojosa et al, 1996;Johnson and Cook, 1961;Kamiji et al, 1991;Lawrence and Bersu, 1982;Leckie, 1975;Le Marec et al, 1976;Libersa and Heritier, 1974;Scholl, 1977;Shermak and Dufresne, 1996;Ursell, 1972;Van de Sande, 1966;Woon and Tan, 1979], and only two previous cases of isolated dysgnathia have survived infancy [Kamiji et al, 1991;Shermak and Dufresne, 1996]. Dysgnathia in association with holoprosencephaly, situs inversus, and other anomalies has been reported more frequently [Ades and Sillence, 1992;Carles et al, 1987;Gaba et al, 1981;Machin et al, 1985;Pauli et al, 1983;Porteous et al, 1992;Rolland et al, 1991;Hersh et al, 1989;Pauli et al, 1981;Leech et al, 1988;Meinecke et al, 1990;Persutte et al, 1990;Brown and Marsh, 1990;Dao et al, 1988;LeMaitre et al, 1982;Peiffer et al, 1992;Walker et al, 1995].…”

Prenatal sonographic diagnosis of isolated agnathia: a case report

“…Because the body of the tongue and part of the external and middle ear are also derived from the first branchial arch, agnathia is associated with a variety of abnormalities of the tongue (aglossia or microglossia) and the ears (low‐set ears, synotia or otocephaly)1, 8. Delay or derangement of development of the maxillary swelling (proximal first branchial arch) may account for the abnormalities of the oropharyngeal region resulting in obstruction of the airway such as choanal atresia, as in this case9. Microstomia, as shown in this case, is generally thought to be secondary to failure of growth of the mandibular arch.…”

Prenatal diagnosis of agnathia-holoprosencephaly: three-dimensional imaging by helical computed tomography

“…Less than 100 cases have been reported in the Eighteen additional reports of agnathia have been published in the last two decades (Bixler et al, 1985;Carles et al, 1987;Leech et al, 1988;Krassikoff and Sekhon, 1989;Robinson and Lenke, 1989;Brown and Marsh, 1990;Hennekam, 1990;Meinecke et al, 1990;Persutte et al, 1990a,b;Kamiji et al, 1991;Rolland et al, 1991;Peiffer et al, 1992;Stoler and Holmes, 1992;Porteus et al, 1993;Walker et al, 1995;Okuno et al, 1996;Lin et al, 1998).…”