A distinct dominant form of microtia and conductive hearing loss.
Explore the source record for details and available documents.
Child↗
Biomedical subjects
R Ruenes
Publications and source records attributed to R Ruenes.
A syndrome with mixed deafness, Mozart ear, middle and inner ear dysplasias.
A 10-year-old boy presenting a disorder of multiple malformations with an otologic component consisting of mixed deafness, Mozart ear, thin stapes, small oval window and agenesis of the semicircular canals, was studied. A comparative analysis of similar malformation-entities has permitted the delineation of a previously undescribed syndrome.
Abnormalities, Multiple↗
Autosomal recessive sensorineural-conductive deafness, mental retardation, and pinna anomalies.
Three siblings, a boy and two girls aged 11, 9, and 4 years, were found to have a congenital disorder characterized by malformed, low-set ears and sensorineural-conductive hearing loss. Variable expressivity was evident, since the boy had both types I and III of microtia and his two sisters had only type I. The normal parents were third cousins. The analysis of these findings permits the identification of a distinct nosologic entity due to the homozygocity of an autosomal recessive mutation.
Child↗