A family with autosomal dominant inherited dysmorphic small auricles, lip pits, and congenital conductive hearing impairment.
METHODS
We examined 3 generations in a family for congenital conductive hearing impairment, dysmorphic small auricles, and lip pits.


METHODS
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.


CONCLUSIONS
Using gene linkage, we confirmed that these autosomal dominant inherited branchial anomalies present a new separate branchial arch syndrome.
Koch
S M
SM
Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands.
Kumar
S
S
Cremers
C W
CW
D000293:Adolescent; D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004200:Diseases in Twins / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008046:Lip / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D010641:Phenotype