Publication: Escher-Hirt syndrome
Escher-Hirt syndrome
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Citations
Kotzot, D., Schlegel, C., Wichmann, W., & Schinzel, A. (1997). Escher-Hirt syndrome. Clinical Dysmorphology, 6(4), 315–321. https://doi.org/10.1097/00019605-199710000-00003
Abstract
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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 deaf
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Creators (Authors)
- Kotzot, Dieter
- Schlegel, Christoph
- Wichmann, Werner
- Schinzel, Albert
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Citations
Kotzot, D., Schlegel, C., Wichmann, W., & Schinzel, A. (1997). Escher-Hirt syndrome. Clinical Dysmorphology, 6(4), 315–321. https://doi.org/10.1097/00019605-199710000-00003
