Objectives: We report a contemporary individual who died with advanced holoprosencephaly (HPE) to encourage recognition of rare diseases (RDs), especially congenital conditions in archaeological samples. We also explore the range of conditions associated with hydrocephalus in support of nuanced interpretations of this disease.
Materials: The skeleton of a 17-year-old male who died with clinically diagnosed HPE, along with an age and sex matched comparative sample of 6 individuals who suffered accidental death and who were normal.
Methods: We observed and measured all remains using standard osteological methods. The clinical records for Ecce Homo were scrutinized; his family was interviewed, and his skull was X-rayed.
Results: The morphology and morphometry of Ecce Homo's skeleton display irregularities along the cranial midline and the postcranial skeleton consistent with anomalies derived from HPE as well as related congenital disorders and physical anomalies.
Conclusions: We have reported HPE here and developed a differential diagnosis with closely related conditions. Likewise we relate the information generated in the clinical history and interviews with the family of Ecce Homo to facilitate an understanding of the social context.
Significance: This case is exceptional in providing information from the life context of a contemporary individual who suffered from a rare disease (HPE), with skeletal remains could be studied extensively. The differential diagnosis is useful in identifying HPE and other closely related conditions.
Limitations: This is a single example with clinical intervention.
Suggestions for further research: Future osteological research should occur on other cases of HPE; molecular studies may offer further clarity.
Keywords: Clinical history; Differential diagnosis; Holoprosencephaly; Model of care; Osteopathology.
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