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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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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.

The Journal of Craniofacial Surgery
|November 23, 2016
PubMed

Holoprosencephaly (HPE) is a malformation of the brain, occurring during the first weeks of pregnancy, that may be associated with several craniofacial alterations and different pathological conditions.The authors describe a 2-year-old girl with lobar HPE, epilepsy, but with a roughly normal face. Despite the macroscopic, clinical appearance, a facial morphometric analysis, performed through a stereophotogrammetric system, showed features that diverge from reference subjects and that are considered typical of HPE.This study highlights how a digital anthropometric facial assessment through stereophotogrammetry can be a useful and noninvasive instrument to investigate the facial features of HPE, especially in the presence of an apparently normal facial aspect. Additionally, it can provide the bases for future insights about the relationship between embryological facial and cerebral development, the time of the occurred defect and, in the end, enrich basic scientific knowledge.

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