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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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) …
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 …
velopharyngeal dysfunction (VPD) in patients with 22q11. 2 deletion syndrome (22q11 …
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