Individual IV:3, fraternal twin sister of IV:2, has glasses but not PRS or cleft palate. Individuals IV:1 and IV:2 have a history of PRS with cleft palate and glasses. The family history is shown in the subsequent pedigree ( Figure 1), which was created using the Proband application for iPad (Children’s Hospital of Philadelphia Department of Biomedical and Health Informatics, Philadelphia, PA).

A greater understanding of the anatomy would provide important insight into speech outcomes and variations among those with PRS and accompanying syndromes related to velopharyngeal closure and speech. Structural and functional investigations among this population have been isolated to radiographic and computer tomography studies. However, to the best of our knowledge, no studies have described the use of MRI to characterize velopharyngeal muscular structures in individuals with PRS. These MRI studies demonstrate the value of using MRI for assessing velopharyngeal structures and their function and the potential clinical utility of MRI in improving postsurgical speech outcomes. Studies have previously examined the levator muscle in children with noncleft and cleft palate anatomy. MRI has been successfully used to describe craniofacial, velopharyngeal, and levator veli palatini (levator) measures in children. Magnetic resonance imaging (MRI) is the only imaging modality that allows visualization of the internal musculature in vivo.

Pierre robin sequence in utero