A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate

Wei Liang; Wenbin Huang; Bohui Sun; Wenjie Zhong; Yunfan Zhang; Jieni Zhang; Zhibo Zhou; Jiuxiang Lin; Feng Chen

doi:10.1089/gtmb.2021.0111

A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2021.0111 ◽

2021 ◽

Vol 25 (12) ◽

pp. 749-756

Author(s):

Wei Liang ◽

Wenbin Huang ◽

Bohui Sun ◽

Wenjie Zhong ◽

Yunfan Zhang ◽

...

Keyword(s):

Cleft Lip

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Treating Velopharyngeal Inadequacy Using Bilateral Buccal Flap Revision Palatoplasty

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0005 ◽

2019 ◽

Vol 4 (5) ◽

pp. 878-892

Author(s):

Joseph A. Napoli ◽

Linda D. Vallino

Keyword(s):

Systematic Review ◽

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

A Priori ◽

Sufficient Evidence ◽

Obstructive Sleep ◽

Before And After ◽

Buccal Flap

Purpose The 2 most commonly used operations to treat velopharyngeal inadequacy (VPI) are superiorly based pharyngeal flap and sphincter pharyngoplasty, both of which may result in hyponasal speech and airway obstruction. The purpose of this article is to (a) describe the bilateral buccal flap revision palatoplasty (BBFRP) as an alternative technique to manage VPI while minimizing these risks and (b) conduct a systematic review of the evidence of BBFRP on speech and other clinical outcomes. A report comparing the speech of a child with hypernasality before and after BBFRP is presented. Method A review of databases was conducted for studies of buccal flaps to treat VPI. Using the principles of a systematic review, the articles were read, and data were abstracted for study characteristics that were developed a priori. With respect to the case report, speech and instrumental data from a child with repaired cleft lip and palate and hypernasal speech were collected and analyzed before and after surgery. Results Eight articles were included in the analysis. The results were positive, and the evidence is in favor of BBFRP in improving velopharyngeal function, while minimizing the risk of hyponasal speech and obstructive sleep apnea. Before surgery, the child's speech was characterized by moderate hypernasality, and after surgery, it was judged to be within normal limits. Conclusion Based on clinical experience and results from the systematic review, there is sufficient evidence that the buccal flap is effective in improving resonance and minimizing obstructive sleep apnea. We recommend BBFRP as another approach in selected patients to manage VPI. Supplemental Material https://doi.org/10.23641/asha.9919352

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