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The Embryology Behind a Poorly Understood Pathology: Craniofacial Microsomia - An Objective Analysis
Youssef H. Tahiri, MD, CM, MSc, FRCSC, FAAP1, Jorien Tuin, MD2, Thomas Paliga, BA2, Jesse A. Taylor, MD2, Scott P. Bartlett, MD, FACS2.
1Indiana University, Indianapolis, IN, USA, 2Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Background: Although Craniofacial Microsomia (CFM) is the second most common congenital craniofacial deformity after cleft lip/palate, its embryology is not well understood. The purpose of this study is to evaluate associations between the individual anatomical deformities of CFM and clarify its embryology.
Methods: An IRB-approved retrospective chart review was performed for patients who presented with a diagnosis of unilateral or bilateral CFM from 1990 to 2012. Demographic, diagnosis, classification, treatment, and radiographic data were abstracted for all patients who met inclusion criteria. Associations and correlations were evaluated using the Spearman’s Rank test and a Logistic Regression Model.
Results: 105 patients with CFM met inclusion criteria. 81 patients (77.1%) had unilateral microsomia and 24 patients (22.9%) had bilateral microsomia. 28 patients had macrostomia. Correlations between the degree of orbital, mandibular and soft tissue deformities were all significantly interrelated (p=0.000-0.018). Moreover, the severity of ear deformity and facial nerve involvement were also significantly correlated (p = 0.008). Between these two groupings there was a significant correlation between soft tissue deficiency and nerve involvement (p=0.010). Macrostomia was associated with the individual components of the group orbit (p=0.008), mandible (p=0.000) and soft tissue (p=0.005).
Conclusions: This analysis demonstrates that the association between structures using the OMENS+ classification may be caused by their branchial arch origin. Structures mainly developed from each branchial arch are associated in degree of severity.


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