Summary A complex syndrome characterized mainly by aural, oral, and mandibular developmental anomalies which may vary from mild to severe and frequently involve one side of the body. Vertebral anomalies, epibulbar epidermoids, mental retardation, and numerous other anomalies are frequently associated. Orofacial anomalies differ from those in mandibulofacial dysostosis which are usually symmetrical. The presence of hypertelorism may indicate aneuploidy.
Some cases show aplasia or hypoplasia of the mandibular ramus of the condyle.
Skull defects may include cranium bifidum, microcephaly, dolichocephaly, and plagiocephaly with antero-inferior displacement of the temporomandibular joint. Ear anomalies include anotia, preauricular tags, cartilaginous masses, anomalous pinnae, atresia of the external auditory canal, and hypoplasia and agenesis of the ossicles. Cervical vertebral fusion, platybasia and occipitalization of the atlas. Spina bifida, vertebral anomalies, scoliosis, and Klippel-Feil anomaly. Some cases are complicated by congenital heart defects, including tetralogy of Fallot with or without right aortic arch, transposition of the great vessels, hypoplasia of the aortic arch, coarctation of the aorta, cardiomegaly, pulmonary stenosis, dextrocardia, situs inversus, and hypoplasia of the external carotid artery.