Palatal evaluation and treatment in 22q11. 2 deletion syndrome

O Jackson, TB Crowley, R Sharkus… - American Journal of …, 2019 - Wiley Online Library
Palatal involvement occurs commonly in patients with 22q11. 2 Deletion Syndrome (22qDS),
and includes palatal clefting and velopharyngeal dysfunction in the absence of overt or …

Clinical features in patients with 22q11. 2 deletion syndrome ascertained by palatal abnormalities

TP Vieira, FP Monteiro, IC Sgardioli… - The Cleft Palate …, 2015 - journals.sagepub.com
Objectives The aim of this study was to describe clinical features in subjects with palatal
abnormalities and to assess the distribution of these features among those with and without …

Chromosome 22q11. 2 deletion syndrome

E Pereira, R Marion - 2015 - publications.aap.org
Abnormalities of the soft and hard palate are seen in approximately 70% of patients. Defects
range from overt clefts of the secondary palate to submucous clefts that may not be …

Speech and hearing in adults with 22q11. 2 deletion syndrome

C Persson, V Friman, S Óskarsdóttir… - American journal of …, 2012 - Wiley Online Library
The purpose of the study was to investigate the prevalence of velopharyngeal impairment,
compensatory articulation, reduced intelligibility, and to rate the general impression of …

Otolaryngologic manifestations of the 22q11. 2 deletion syndrome

O Dyce, D McDonald-McGinn… - … –Head & Neck …, 2002 - jamanetwork.com
Background The 22q11. 2 chromosome deletion syndrome occurs at a frequency of 1 in
4000 live births. Fluorescent in situ hybridization is a reliable means of testing for this …

Evaluation of potential modifiers of the palatal phenotype in the 22q11. 2 deletion syndrome

DA Driscoll, T Boland, BS Emanuel… - The Cleft palate …, 2006 - journals.sagepub.com
Objective To evaluate potential modifiers of the palatal phenotype in individuals with the
22q11. 2 deletion syndrome. Design Data from 356 subjects enrolled in a study of the …

Is isolated palatal anomaly an indication to screen for 22q11 region deletion?

O Reish, Y Finkelstein, R Mesterman… - The Cleft palate …, 2003 - journals.sagepub.com
Objective Velocardiofacial syndrome (VCFS) is the most common multiple anomaly disorder
associated with palatal clefting. Cytogenetic hemizygous deletion of 22q11 region is found …

Velopharyngeal dysfunction and 22q11. 2 deletion syndrome: a longitudinal study of functional outcome and preoperative prognostic factors

NE Spruijt, JCC Widdershoven… - The Cleft palate …, 2012 - journals.sagepub.com
Objective To describe the effect of time after velopharyngoplasty on outcome and to search
for preoperative prognostic factors for residual hypernasality in patients with 22q11. 2 …

Otolaryngological features in a cohort of patients affected with 22q11. 2 deletion syndrome: A monocentric survey

F Grasso, E Cirillo, G Quaremba… - American Journal of …, 2018 - Wiley Online Library
Otorhinolaryngologic manifestations are common in 22q11. 2 deletion syndrome (22q11.
2DS), but poorly described. This study aimed to better define the ear‐nose‐throat (ENT) …

Management of velopharyngeal dysfunction in patients with 22q11. 2 deletion syndrome: a survey of practice patterns

OA Jackson, K Paine, L Magee, MA Maguire… - International Journal of …, 2019 - Elsevier
Objective To determine demographics and practice patterns of surgeons treating
velopharyngeal dysfunction (VPD) in patients with 22q11. 2 deletion syndrome (22q11 …