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).
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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 > School of Life and Medical 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 |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10081412 |
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