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Familial absent uvula with velopharyngeal incompetence - a new syndrome?

Sommerlad, B; Seselgyte, R; Lees, M; Pauws, E; Stanier, P; Sell, D; (2019) Familial absent uvula with velopharyngeal incompetence - a new syndrome? The Cleft Palate-Craniofacial Journal 10.1177/1055665619880401. (In press). Green open access

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Abstract

We present a family with a previously undescribed abnormality of the palate and oropharynx which involved the absence of the uvula and the anterior pillar of the fauces, rudimentary posterior pillar of the fauces, and hypernasality. Eight family members over 4 generations are affected in a pattern consistent with autosomal dominant inheritance. A causal role for the FOXF2 gene has been identified and previously reported. We describe the management of the proband, which involved attempting to lengthen the palate and to retroposition the abnormally anteriorly directed velar musculature, along with speech therapy.

Type: Article
Title: Familial absent uvula with velopharyngeal incompetence - a new syndrome?
Open access status: An open access version is available from UCL Discovery
DOI: 10.1177/1055665619880401
Publisher version: https://doi.org/10.1177/1055665619880401
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: familial, absent uvula, FOXF2, hypernasality, velopharyngeal incompetence, speech disorder
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10081412
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