title: Familial microtia with meatal atresia and conductive deafness in five generations.
abstract: We describe a large family with congenital microtia, auditory meatal atresia and conductive deafness. The pedigree suggests autosomal dominant inheritance with variable expression and low penetrance. The literature is also reviewed to describe the inheritance pattern and clinical spectrum noted in this rare syndrome so far. The family is unique because the set of otologic anomalies in five generations was associated with renal cysts in one of the affected members, suggesting that this oto-renal (OR) syndrome may represent a variable expression of the branchio-oto-renal (BOR) syndrome. However, the probability is that this dominant malformation syndrome is a distinct entity.
authors.affiliation: Department of Medical Genetics, St. George's Hospital Medical School, London, United Kingdom.
authors.forename: A
authors.initials: A
authors.lastname: Gupta
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
mesh_terms: D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome