Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?
The differential diagnosis of syndromes with anomalies of the first and second branchial arches includes the oculo-auriculo-vertebral syndrome, the Treacher-Collins syndrome, the acrofacial dysostoses (including Nager and Miller syndromes), the dysgnathia complex and the auriculo-condylar syndrome. Isolated microtia may also be present with involvement of other facial structures and distant organs. We report here a patient with first and second branchial arch anomalies, born to consanguineous parents. Pertinent physical findings include severe micrognathia, absence of the upper portion of the helices, atresia of the external meati and absence of the middle ear ossicles, mildly down-slanting palpebral fissures and a highly arched palate with a submucous cleft. Discussion of the differential diagnosis highlights the clinical overlap between these conditions. This constellation of findings may represent a more severe manifestation of the auriculo-condylar syndrome or a previously undescribed syndrome.
Nezarati
Marjan M
MM
Northern Regional Genetic Services, Auckland City Hospital, Auckland, New Zealand.
Aftimos
Salim
S
D000293:Adolescent; D002754:Choanal Atresia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008844:Micrognathism / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree