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Sacha M. P. Koch, MD; Shrawan Kumar, PhD; Cor W. R. J. Cremers, MD, PhD

Arch Otolaryngol Head Neck Surg. 2000;126:639-644.

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.

From the Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, the Netherlands (Drs Koch and Cremers); and the Department of Genetics, Boys Town National Research Hospital, Omaha, Neb (Dr Kumar).