A Possible case of Facio-Auriculo-Vertebral sequence (FAVs) in an adult female from medieval Iceland (13th-16th Century).

OBJECTIVE: This paper presents a possible case of Facio-Auriculo-Vertebral sequence (FAVs) in an adult female from Haffjarðarey, Western Iceland (1200-1563 CE) and a brief review of associated terminology. MATERIALS: The skeletal remains of a single adult female (HFE-A-34, 18-24 years old), excavated in 1945 by the National Museum of Iceland. METHODS: We carried out macroscopic examination of the cranium and mandible in 2017. RESULTS: Right side unilateral asymmetric craniofacial dysplasia was identified on the cranium and mandible of HFE-A-34. CONCLUSIONS: This individual presents with anomalous craniofacial asymmetry consistent with a clinical diagnosis of FAVs. SIGNIFICANCE: This paper offers a visually distinct case of an under-represented and under-documented congenital condition for future identification within paleopathology. LIMITATIONS: Infra-cranial skeletal manifestations of FAVs would strengthen this possible diagnosis, but at this time it is not possible to definitively link the cranium and mandible of HFE-A-34 to any of the infra-cranial remains excavated from Haffjarðarey. SUGGESTIONS FOR FURTHER RESEARCH: In addition to further clarifying the variable nature of FAVs in archaeological remains, a detailed discussion of disability and the perception of disabled individuals within the medieval North Atlantic is necessary in order to understand the lived experiences of affected individuals.

Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy).

BACKGROUND: This study is based in an analysis of the skeletal remains of an adult male from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Teramo, Italy). RESULTS AND DISCUSSION: The individual shows distinct abnormalities that principally involve asymmetric hypoplasia and dysmorphogenesis of the facial skeleton. The combination of these findings and the absence of abnormalities of the spine strongly suggest diagnosis of the congenital malformation known as hemifacial microsomia. This very heterogeneous syndrome affects primarily aural, ocular, oral and mandibular development. Despite the lack of clinical information and the absence of soft tissue, it was possible to perform a differential diagnosis for this palaeopathological case. Mastication was probably altered considering that the mandible is extremely asymmetric and lacks true condyles. The temporomandibular joints are present, but the right one is hypoplastic and abnormal in shape. There is evidence of bilateral dislocation, and the facial muscles are hypertrophic. CONCLUSIONS: This case represents an important contribution to the palaeopathological literature because this is an uncommon condition that has not been widely documented in ancient skeletal remains.

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.