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Congenital Muscular Hypotonia is Associated with Platybasia: A Novel Pathoanatomic Basis for Recalcitrant Velopharyngeal Insufficiency

Michael R. Bykowski, Lucas A. Dvoracek, Matthew D. Ford, Alexander J. Davit, Lorelei J. Grunwaldt, Jesse A. Goldstein, Joseph E. Losee
University of Pittsburgh
2019-02-18

Presenter: Michael R. Bykowski

Affidavit:
The majority of work presented represents the work by the submitting resident.

Director Name: Vu Nguyen

Author Category: Resident Plastic Surgery
Presentation Category: Clinical
Abstract Category: Craniomaxillofacial

INTRODUCTION: Velo-Cardio-Facial Syndrome (VCFS) is associated with recalcitrant velopharyngeal insufficiency (VPI). Platybasia, or abnormally obtuse cranial base angle (CBA), is common to VCFS and contributes to VPI. To discern the impact of platybasia and hypotonia on speech outcomes, we examined CBA and lateral pharyngeal wall motion among three groups of patients with VPI: 1) VCFS (platybasia + hypotonia); 2) Non-VCFS congenital muscle hypotonia (hypotonia); and 3) OSMCP alone (absent platybasia and hypotonia).

METHODS: We present a retrospective analysis of patients with OSMCP who underwent Furlow palatoplasty for VPI (2004 – 2016). FISH testing confirmed 22q11.2 deletion (VCFS) or lack thereof (Hypotonia). CBA and lateral wall motion measurements were obtained from MRI and videofluorscopy. Speech was quantified using the Pittsburgh Weighted Speech Scale (PWSS).

RESULTS: All patients (n=124) underwent Furlow palatoplasty (mean follow-up= 3.3 years). The 'VCFS' (n=14) and 'Hypotonia' groups (n=14) had significantly more obtuse CBA, less lateral wall motion and worse postoperative PWSS compared to 'OSMCP alone' (n=100; see Table). Pharyngeal width for the 'Hypotonia' group was greater compared to both the 'VCFS' and 'OSMCP alone' groups (p= 0.03).

CONCLUSIONS: While platybasia is well-known to be characteristic of VCFS and to negatively impact velopharyngeal valving, an unexpected and novel finding of this study is that platybasia is common amongst patients with non-VCFS congenital muscle hypotonia. These findings are important because with hypotonia-associated VPI occurs independent of VCFS but similarly common. This new knowledge provides a proposed mechanism for hypotonia-related VPI and can help guide surgical decision making for its management.

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