Caruncle abnormalities in the oculo-auriculo-vertebral spectrum

Goldenhar syndrome (GS) is a congenital disorder believed to be caused by the defective development of the first and second brachial arches and the first brachial clefts during the fourth through eighth weeks of embryologic development. It is characterized by epibulbar dermoids and/or lipodermoids, preauricular tags, pretragal fistulas, hemifacial microsomia, and vertebral anomalies. Other ocular and nonocular symptoms have also been described. To our knowledge there are only three previous reports of abnormal caruncles in GS. We have reviewed our experience with a consecutive series of seven GS patients with caruncular malformations. Caruncular abnormalities included dysplatic and/or bilobed caruncles (two cases), ectopic caruncles (three bilateral cases and one unilateral case), and ectopic plus dysplastic caruncles (one case). Our experience suggests that the incidence of caruncular malformations in GS anomalies is higher than previously reported. This may be clinically important in differentiating GS from other first- and second-arch syndromes. Additionally, linking abnormalities in the first and second months of gestation that cause the typical stigmata of GS with malformation of the caruncles, which normally develop in the third month of gestation, could provide clues to the pathogenesis of GS.