A Case Report of Agnathia-otocephaly Complex (Otocephaly)

Abstract

Agnathia-otocephaly complex is a first gill arch developmental anomaly characterized by a missing or hypoplastic mandible and may be associated with holoprosencephaly and visceral abnormalities. However, long-term survival is extremely rare, and thus methods of managing oral health in this rare disease have not been established.

An 11-month-old boy demonstrated low body weight and short stature, as well as delayed motor development during the course of growth up to the age of 2 years. Facial appearance was palpebral fissure-downslanted, low-set ears, small mouth, and no redness on the lower lip. Computed tomography (CT) images revealed a complete mandibular defect and peri-mandibular muscular dysplasia, while deciduous teeth and first molar calcification were observed in the maxilla. The major salivary gland structure was unclear on the CT image, but drooling was observed, suggesting salivary gland function. Although the patient had delayed tooth eruption, the mesiodistal widths of the maxillary deciduous central incisors were relatively large, approximately 1SD larger than the average value for Japanese children.

Few reports of long-term survival of agnathia-otocephaly complex have been reported, but this case survived by postnatal tracheostomy and tube feeding, and because of the eruption and salivation, it is necessary to be careful about aspiration pneumonia due to dental calculus deposition, as is generally the case with tube-fed patients.

In addition, because the mouth is very small, it is anticipated that it will be very difficult to check the oral cavity and perform dental procedures in the future；therefore, it is important to explain the prognosis to the family and to collaborate with the medical department.