Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome.
Branchiogenic syndromes such as branchio-oto-renal syndrome, Treacher Collins syndrome, and hemifacial microsomia are well delineated. From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, commissural lip pits, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.
Marres
H A
HA
Department of Otorhinolaryngology, University of Nijmegen, The Netherlands.
Cremers
C W
CW
D000015:Abnormalities, Multiple / Q000235:genetics*; D000158:Acoustic Impedance Tests; D000328:Adult; D001301:Audiometry, Pure-Tone; D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006314:Hearing Loss, Conductive / Q000151:congenital*; D006801:Humans; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics; D010375:Pedigree; D013577:Syndrome