Header

UZH-Logo

Maintenance Infos

Escher-Hirt syndrome


Kotzot, Dieter; Schlegel, Christoph; Wichmann, Werner; Schinzel, Albert (1997). Escher-Hirt syndrome. Clinical Dysmorphology, 6(4):315-321.

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.

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.

Statistics

Citations

Dimensions.ai Metrics
1 citation in Web of Science®
2 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

0 downloads since deposited on 18 Apr 2023
0 downloads since 12 months

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Health Sciences > Anatomy
Health Sciences > Pathology and Forensic Medicine
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), General Medicine, Pathology and Forensic Medicine, Anatomy, Pediatrics, Perinatology and Child Health, Escher-Hirt syndrome, conductive hearing loss/deafness, autosomal dominant inheritance, microtia, thickened ear lobe
Language:English
Date:1 October 1997
Deposited On:18 Apr 2023 14:40
Last Modified:29 Apr 2024 01:37
Publisher:Lippincott Williams & Wilkins
ISSN:0962-8827
OA Status:Closed
Publisher DOI:https://doi.org/10.1097/00019605-199710000-00003
PubMed ID:9354839