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Facial Evaluation in Holoprosencephaly.
Valentina Pucciarelli1, Simona Bertoli, Marina Codari
1*Department of Biomedical Sciences for Health, Functional Anatomy Research Center (FARC), Università degli Studi di Milano Milan †Department of Food, Environmental, and Nutritional Sciences (DeFENS), International Center for the Assessment of Nutritional Status (ICANS), University of Milan, Milan ‡Department of Child Neurology and Psychiatry, C. Mondino National Neurological Institute §Brain and Behaviour Department, University of Pavia, Pavia, Italy.
Holoprosencephaly (HPE) is a brain malformation that can affect facial features, even when they appear normal. Stereophotogrammetry can detect subtle HPE facial differences, aiding in understanding brain and facial development.
Area of Science:
- Developmental Biology
- Neuroscience
- Medical Imaging
Background:
- Holoprosencephaly (HPE) is a congenital brain malformation affecting early embryonic development.
- HPE can present with diverse craniofacial anomalies and associated pathologies.
- Early diagnosis and understanding of HPE's spectrum are crucial for patient management.
Observation:
- A case study of a 2-year-old girl with lobar HPE and epilepsy, exhibiting a nearly normal facial appearance.
- Standard clinical examination did not reveal significant craniofacial dysmorphia.
- Facial morphometric analysis using stereophotogrammetry was employed for detailed assessment.
Findings:
- Stereophotogrammetry revealed subtle but significant facial features diverging from typical reference subjects.
- These digitally identified features were consistent with characteristics associated with HPE.
- The study demonstrates the capability of non-invasive digital anthropometry in HPE assessment.
Implications:
- Digital anthropometric facial assessment via stereophotogrammetry is a valuable tool for investigating HPE, particularly in cases with subtle or normal-appearing faces.
- This technology can enhance the understanding of the relationship between embryonic brain and facial development.
- Findings may contribute to a deeper understanding of HPE etiology and developmental timing, enriching fundamental scientific knowledge.
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