Author(s): Walker PJ, Edwards MJ, Petroff V, Wilson I, Temperley AD,
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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.
This article was published in J Paediatr Child Health
and referenced in Journal of Communication Disorders, Deaf Studies & Hearing Aids