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Forschungsdatenbank PMU-SQQUID

Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary.
Panzer, S; Cohen, M; Esch, U; Nerlich, AG; Zink, AR;
Homo. 2008; 59(6):453-461
Originalarbeiten (Zeitschrift)

PMU-Autor/inn/en

Panzer Stephanie

Abstract

We investigated the skull of a juvenile living in Southern Germany between 1400 and 1800 A.D. A remarkable hemifacial microsomia led to further detailed computed tomographic examination especially of the petrous bone revealing a total bony atresia of the external auditory canal as well as distinct anomalies of the middle ear on the same side. The combination of these findings strongly suggests the diagnosis of Goldenhar syndrome. This very heterogeneous syndrome affects primarily aural, ocular, oral and mandibular development, whereby the constellation of anomalies indicate their origin at approximately 30-45 days of gestation, caused by genetic or intrauterine factors. Despite the lack of clinical information and the absence of soft tissue it was possible to perform a differential diagnosis in this palaeopathological case. Thereby, the use of modern modalities of image reconstructions in this computed tomographic clearly enhanced the supposed diagnosis.


Useful keywords (using NLM MeSH Indexing)

Adolescent

Chorda Tympani Nerve

Facial Asymmetry/diagnostic imaging

Facial Nerve/pathology

Goldenhar Syndrome/diagnostic imaging*

Goldenhar Syndrome/history

History, 15th Century

History, 16th Century

History, 17th Century

History, 18th Century

Humans

Male

Paleopathology*

Radiography

Skull/diagnostic imaging*