title: Escher-Hirt syndrome.
abstract: A mother and her two daughters are reported with bilateral conductive deafness due to incudo-stapedial abnormalities, and microtia with thickened ear lobes. This pattern of abnormal findings, transmitted with an autosomal dominant mode of inheritance, is characteristic of the Escher-Hirt syndrome. One of the daughters died from an additional cardiac malformation (VSD). Anomalies of the middle ear were demonstrated in the surviving patients by computed tomography. Differential diagnosis with other genetic syndromes associated with deafness, and possible therapeutic approaches are discussed.
authors.affiliation: Institute of Medical Genetics, University of Zürich.
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
authors.forename: C
authors.initials: C
authors.lastname: Schlegel
authors.forename: W
authors.initials: W
authors.lastname: Wichmann
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D000328:Adult; D002648:Child; D003638:Deafness / Q000235:genetics; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome