Denouement and Discussion
Major manifestations are aplasia or hypoplasia of the ear, preauricular skin tags, hypoplasia of the maxilla and mandible, malocclusion of the affected side and eye abnormalities. All these abnormalities are unilateral. The ear abnormalities are quite variable and may consist of a completely absent ear with or without an external canal, varying degrees of hypoplasia, or an ear that is just slightly smaller than the unaffected side. The skin tags may be preauricular or located on a line extending from the tragus to the corner of the mouth. Macrostomia is usually present but hypoplasia of the facial muscles may make it more pronounced. The eye abnormalities include a lower palpebral fissure on the affected side, microphthalmia, cysts, iris and choroid colobomas, and strabismus. The hypoplasia of the maxilla and mandible may be quite obvious or found only on x-ray examination. Pulmonary agenesis has also
Gellis SS, Feingold M. Picture of the Month. Am J Dis Child. 1971;122(1):57–58. doi:10.1001/archpedi.1971.02110010093016
Customize your JAMA Network experience by selecting one or more topics from the list below.