Rare cases of rare diseases: Re-examining early 20th century cases of anencephaly from the collection of the Moscow State University, Russia.

OBJECTIVE

Documented cases of anencephaly were used to increase differential criteria of this rare disease.

MATERIAL: Two skulls from a 20th-century documented medical collection at the Moscow State University diagnosed with anencephaly.

METHODS

The skulls were evaluated based on macroscopic qualitative and quantitative morphological signs and X-ray analyses.

RESULTS

Metric values and morphological features differ between the two cases of anencephaly noted in the collection and the published data based on normal fetal and neonatal remains.

CONCLUSIONS

Analyses of medical collections helps to increase the number of diagnostic criteria for recognition and diagnosis of anencephaly in archaeological skeletons.

SIGNIFICANCE: Improvement in the recognition of skeletal alterations associated with anencephaly is key towards improving our understanding of rare diseases in the past.

LIMITATIONS: The fragility of skeletal elements of fetal and neonate individuals can complicate thorough analyses.

SUGGESTIONS FOR FURTHER RESEARCH: Continue to identify cases of anencephaly cases in medical collections and in archaeological contexts.