JOURNAL ARTICLE

Velopharyngeal Characteristics in Aarskog–Scott Syndrome: A Case Report.

  • Published In: Cleft Palate Craniofacial Journal, 2024, v. 61, n. 5. P. 892 1 of 3

  • Database: CINAHL Ultimate 2 of 3

  • Authored By: Kollara, Lakshmi; Reiss, Samantha L.; Singam, Sreekara; Kellogg, Brian 3 of 3

Abstract

This article focuses on velopharyngeal insufficiency (VPI) and hypernasal speech in a patient with Aarskog–Scott syndrome (AAS), a rare genetic disorder characterized by facial, skeletal, and genital abnormalities. It presents a case of a 13-year-old male with genetically confirmed AAS exhibiting severe hypernasality without an overt cleft palate, assessed through perceptual speech evaluation, nasopharyngoscopy, and magnetic resonance imaging (MRI). MRI revealed a thin, flat velum, a deep pharynx, and a hypoplastic levator veli palatini muscle contributing to a persistent velopharyngeal gap during speech, expanding the understanding of craniofacial and velopharyngeal anatomy in AAS. The findings suggest that patients with AAS may have unique velopharyngeal variations affecting speech and highlight the importance of careful surgical planning and the utility of MRI in evaluating noncleft VPI in this population.

Additional Information

  • Source:Cleft Palate Craniofacial Journal. 2024/05, Vol. 61, Issue 5, p892
  • Document Type:Journal Article
  • Subject Area:Health and Medicine
  • Publication Date:2024
  • ISSN:1055-6656
  • DOI:10.1177/10556656221141235
  • Accession Number:176331421

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