Maxillofacial Dysostosis

Peters and Hovels (1960) described the familial nature of the syndrome. This is one of the first and second arch syndromes. It is easily confused with mandibulofacial dysostosis (154400). Its features are anterior-posterior shortening of the maxilla, antimongoloid-slanting of the palpebral fissures, minor malformation of the auricles, severe delay in speech, and nonfluent and inarticulate speech. Villaret and Desoille (1932) described 'primary familial hypoplasia of the maxilla' in grandfather, father and son. The mandible was relatively prognathic to a mild degree. Melnick and Eastman (1977) described affected mother and son.