Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary.
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.
Panzer
S
S
Department of Radiology, Murnau Trauma Center, D-82418 Murnau am Staffelsee, Germany. stephanie.panzer@bgu-murnau.de
Cohen
M
M
Esch
U
U
Nerlich
A G
AG
Zink
A R
AR
D000293:Adolescent; D002814:Chorda Tympani Nerve; D005146:Facial Asymmetry / Q000000981:diagnostic imaging; D005154:Facial Nerve / Q000473:pathology; D006053:Goldenhar Syndrome / Q000000981:diagnostic imaging* / Q000266:history; D049668:History, 15th Century; D049669:History, 16th Century; D049670:History, 17th Century; D049671:History, 18th Century; D006801:Humans; D008297:Male; D010164:Paleopathology; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging*