Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome?

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.

authors

Sommerlad B,Seselgyte R,Lees M,Pauws E,Stanier P,Sell D

doi

10.1177/1055665619880401

subject

Has Abstract

pub_date

2020-04-01 00:00:00

pages

514-519

issue

4

eissn

1055-6656

issn

1545-1569

journal_volume

57

pub_type

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