Ecce Homo: Moving past labels to lives

Area of Science:

• Paleopathology
• Medical Genetics
• Human Osteology

Background:

• Holoprosencephaly (HPE) is a spectrum of congenital brain malformations with variable expressivity.
• Understanding HPE's phenotypic range is crucial for accurate diagnosis and interpretation, particularly in rare disease research.
• Hydrocephalus is a common comorbidity associated with HPE, necessitating careful differential diagnosis.

Observation:

• A detailed osteological analysis was performed on the skeletal remains of a 17-year-old male with clinically diagnosed HPE.
• Comparative analysis included a control group of six individuals with normal skeletal development.
• Clinical records, family interviews, and radiographic imaging provided contextual information.

Findings:

• Skeletal morphology and morphometry revealed anomalies along the cranial midline and postcranial skeleton consistent with HPE.
• The observed irregularities support the diagnosis of HPE and related congenital disorders.
• A differential diagnosis was developed to distinguish HPE from closely related conditions.

Implications:

• This case highlights the importance of recognizing rare diseases, especially congenital conditions, in contemporary and archaeological samples.
• The comprehensive differential diagnosis aids in identifying HPE and similar conditions.
• Integrating clinical history with skeletal analysis offers a nuanced understanding of rare diseases and their social context.