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  • Title: A family with autosomal dominant inherited dysmorphic small auricles, lip pits, and congenital conductive hearing impairment.
    Author: Koch SM, Kumar S, Cremers CW.
    Journal: Arch Otolaryngol Head Neck Surg; 2000 May; 126(5):639-44. PubMed ID: 10807332.
    Abstract:
    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.
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