A family with autosomal dominant inherited dysmorphic small auricles, lip pits, and congenital conductive hearing impairment.

DESIGN

We examined 3 generations in a family for congenital conductive hearing impairment, dysmorphic small auricles, and lip pits.

SETTING

Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, the Netherlands.

RESULTS

Seven members of the family had bilateral dysmorphic auricles. Three subjects had either a pit or dimple in the lip. Two subjects had congenital conductive hearing impairment.

CONCLUSION

Using gene linkage, we confirmed that these autosomal dominant inherited branchial anomalies present a new separate branchial arch syndrome.