On Craniofacial Microsomia shape and surgery

Craniofacial microsomia (CFM) is the second most common birth defect of the face after cleft lip and palate. However, studies until now have low patient numbers. Patients with CFM typically have an asymmetrical face due to underdevelopment of one side of the face. They have for instance a smaller and/or abnormal shape of the lower jaw or the ears. This thesis includes the largest phenotypic epidemiology study and surgery study. Furthermore this study gives overview of the major shape changes in 3D instead of the classic 2D analysis. It is the first to describe cranial base changes in 3D within this patient group. The most important findings were: 1. All patients with CFM should be screened for birth defects

Evaluation of Swallow Function in Patients with Craniofacial Microsomia

Craniofacial microsomia (CFM) is characterized by underdevelopment of the structures derived from the first and second pharyngeal arches resulting in aesthetic, psychological, and functional problems including feeding and swallowing difficulties. The aim of this study is to gain more insight into swallowing difficulties in patients with CFM. A retrospective study was conducted in the population of patients diagnosed with CFM at three major craniofacial units. Patients with feeding difficulties and those who underwent video fluoroscopic swallow (VFS) studies were included for further analyses. The outcome of the VFS-studies was reviewed with regard to the four phases of swallowing. In our cohort, 13.5% of the 755 patients were diagnosed with swallowing difficulties. The outcome of the VFS-studies of 42 patients showed difficulties in the oral and pharyngeal phases with both thin and thick liquids. Patients with more severe mandibular hypoplasia showed more difficulties to form an appropriate bolus compared to patients who were less severely affected. This is the first study to document swallowing problems in patients with CFM. Difficulties were seen in both the oral and pharyngeal phases. We recommend routine screening for swallowing issues by a speech and language therapist in all patients with CFM and to obtain a VFS-study in patients with a type III mandible