Submucous Cleft Palate Repair in Patients With 22q11.2 Deletion Syndrome

2020 ◽  
Vol 58 (1) ◽  
pp. 84-89
Author(s):  
Jenna Fleming ◽  
Noelle Morrell ◽  
Hanan Zavala ◽  
Siva Chinnadurai ◽  
Brianne Barnett Roby
Keyword(s):  
Cleft Palate ◽  
Surgical Repair ◽  
Surgical Intervention ◽  
Retrospective Chart Review ◽  
22Q11.2 Deletion Syndrome ◽  
Tertiary Hospital ◽  
Velopharyngeal Insufficiency ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Submucous Cleft Palate

Objective: To determine whether surgical intervention for submucous cleft palate (SMCP) is more common in children with 22q11.2 deletion syndrome (22q DS) compared to children without 22q DS. Design: Retrospective chart review. Setting: Tertiary pediatric hospital and 22q11.2 DS specialty clinic. Participants: One hundred forty-two children seen at the tertiary hospital or clinic during a 20-year period (June 1999-June 2019) with documented SMCP with and without 22q DS. Main Outcome Measure: Percentage of children with SMCP with and without 22q DS requiring surgical intervention for velopharyngeal insufficiency. Results: Patients with 22q DS had a significantly higher frequency of SMCP repair than those without 22q DS (89.7% vs 32.0%, P < .001, χ2 = 37.75). The odds of requiring SMCP repair were 18.6 times higher in those with 22q DS compared to those without (odds ratio = 18.6, CI = 6.1-56.6). Conclusions: This study provides new evidence suggesting patients with 22q DS require SMCP surgical repair for velopharyngeal insufficiency at a significantly higher rate than those without 22q DS. As the majority of patients with 22q DS with SMCP require surgical intervention, future prospective studies looking at early versus late repair of SMCP in patients with 22q DS are needed to guide the surgical repair timeline in this population.

scholarly journals Acute dystonia in a patient with 22q11.2 deletion syndrome

2015 ◽  
Vol 7 (2) ◽  
Author(s):  
Konstantinos Kontoangelos ◽  
Antonis Maillis ◽  
Maria Maltezou ◽  
Sofia Tsiori ◽  
Charalambos C. Papageorgiou
Keyword(s):  
Genetic Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Immune Dysfunction ◽  
Velopharyngeal Insufficiency ◽  
Deletion Syndrome ◽  
Facial Appearance ◽  
22Q11.2 Deletion ◽  
Antipsychotic Medications ◽  
Recommended Treatment ◽  
Di George Syndrome

The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune dysfunction; however, little is known about possible neurodegenerative diseases. We describe the case of an 18-year old patient suffering from 22q11.2 deletion syndrome. Since adolescence, he presented with behavioral disorders, recommended treatment with 2 mg aloperidin and he presented cervical dystonia and emergence of torticollis and trunk dystonia. Antipsychotic medications either accelerate or reveal dystonic symptoms.

Two cases of cleft palate with 22q11.2 deletion syndrome

2005 ◽  
Vol 51 (6) ◽  
pp. 291-294
Author(s):  
Fumi OHNO ◽  
Atsushi ABE ◽  
Atsutaka KINOSHITA ◽  
Akiko KATSURAGI ◽  
Yasushi SEKI ◽  
...  
Keyword(s):  
Cleft Palate ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Current Practices and Controversies in Management of the Submucous Cleft Palate

2016 ◽  
Vol 1 (5) ◽  
pp. 59-69 ◽  
Author(s):  
Lynn Marty Grames ◽  
Kamlesh Patel
Keyword(s):  
Cleft Palate ◽  
Surgical Repair ◽  
Consensus Conference ◽  
Velopharyngeal Insufficiency ◽  
Specific Information ◽  
Methods Of Evaluation ◽  
Submucous Cleft Palate ◽  
Cleft Palate Repair ◽  
Palate Repair ◽  
Definition Of

A review of the published literature on submucous cleft palate was conducted. Specific information sought included definition and prevalence of submucous cleft palate, indications for surgical intervention, ideal age for intervention, evaluation tools for submucous cleft palate, and whether or not surgical repair was indicated for treatment of velopharyngeal insufficiency, feeding issues, or ear disease associated with submucous cleft. The research revealed that there is no consistent definition of submucous cleft palate in the published literature, which renders comparison of treatments difficult. In addition, the literature lacks consensus on the indications for submucous cleft palate repair, the effect of repair on ancillary disorders that may exist, and the best methods of evaluation for submucous cleft palate. A consensus conference on the submucous cleft may be valuable in guiding treatment and research going forward.

scholarly journals Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Erica Rosina ◽  
Berardo Rinaldi ◽  
Rosamaria Silipigni ◽  
Luca Bergamaschi ◽  
Giovanna Gattuso ◽  
...  
Keyword(s):  
De Novo ◽  
22Q11.2 Deletion Syndrome ◽  
Copy Number Variations ◽  
Velopharyngeal Insufficiency ◽  
Deletion Syndrome ◽  
Chromosomal Microarray ◽  
22Q11.2 Deletion ◽  
Poor Growth ◽  
Genome Wide ◽  
A Genome

Abstract Background 22q11.2 deletion syndrome is one of the most common genomic disorders, characterized by the variable presence of facial dysmorphisms, congenital cardiac defects, velopharyngeal insufficiency/cleft palate, thymic hypoplasia/aplasia, immunodeficiency, parathyroid hypoplasia, developmental delay, learning disabilities, psychiatric disorders, renal, ocular, and skeletal malformations, hearing loss and laryngeal abnormalities. Chromosomal microarray (CMA) hybridization is one of the most performed diagnostic tests but as a genome wide analysis, it can point out relevant incidental copy number variations. Case presentation We report the case of a 2-year-old boy that came to our attention for mild psychomotor delay, poor growth, and minor facial anomalies. Considering a diagnosis of 22q11.2 deletion syndrome, we performed CMA that not only confirmed our diagnosis, but also pointed out an additional de novo 5q21.3q22.2 microdeletion, encompassing APC gene. As a result of the genetic testing we enrolled the patient in a tailored surveillance protocol that enabled the early detection of a hepatoblastoma. The child underwent surgical and chemotherapic treatments with complete cancer eradication. Conclusions The concurrent finding of an expected result and an additional deletion of APC gene represents an example of a relevant issue about the health and ethical management of secondary findings revealed by genome-wide tests. Furthermore, this report highlights the need to develop dedicated surveillance guidelines for children with APC-related polyposis and raise the question whether to suspect and screen for APC-related conditions in cases of sporadic hepatoblastomas.

Surgical Outcomes for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome

2019 ◽  
Vol 161 (2) ◽  
pp. 348-351 ◽  
Author(s):  
Lauren A. Bohm ◽  
Jessa E. Miller ◽  
Noëlle Morrell ◽  
James D. Sidman ◽  
Brianne B. Roby
Keyword(s):  
Revision Surgery ◽  
22Q11.2 Deletion Syndrome ◽  
Speech Analysis ◽  
Velopharyngeal Insufficiency ◽  
Deletion Syndrome ◽  
Complication Rates ◽  
22Q11.2 Deletion ◽  
Pharyngeal Flap ◽  
Sphincter Pharyngoplasty ◽  
Better Than

This study aimed to compare outcomes of concomitant palatoplasty and sphincter pharyngoplasty with pharyngeal flap and sphincter pharyngoplasty alone for the treatment of velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome. Thirty-one cases were identified for inclusion in the study. Patients were separated into 3 surgical groups: combined palatoplasty and sphincter pharyngoplasty (n = 11), pharyngeal flap (n = 7), and sphincter pharyngoplasty (n = 13). Outcome measures included perceptual speech analyses, surgical complications, and revision rates. There were no differences in preoperative speech analysis scores ( P = .31). The combined palatoplasty and sphincter pharyngoplasty procedure had similar speech outcomes compared to pharyngeal flap, and both were significantly better than sphincter pharyngoplasty alone. Complication rates ( P = .61) and the need for revision surgery ( P = .25) were similar among all 3 groups. Concomitant palatoplasty and sphincter pharyngoplasty may be an alternative treatment for velopharyngeal insufficiency in children with 22q11.2 deletion syndrome.

scholarly journals Overt cleft palate phenotype andTBX1genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

2012 ◽  
Vol 158A (11) ◽  
pp. 2781-2787 ◽  
Author(s):  
Sean B. Herman ◽  
Tingwei Guo ◽  
Donna M. McDonald McGinn ◽  
Anna Blonska ◽  
Alan L. Shanske ◽  
...  
Keyword(s):  
Cleft Palate ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Percutaneous Enteral Feeding in Patients With 22q11.2 Deletion Syndrome

2021 ◽  
pp. 105566562199611
Author(s):  
Bridget Ebert ◽  
Noelle Morrell ◽  
Hanan Zavala ◽  
Sivakumar Chinnadurai ◽  
Robert Tibesar ◽  
...  
Keyword(s):  
Enteral Feeding ◽  
Tube Feeding ◽  
Retrospective Chart Review ◽  
22Q11.2 Deletion Syndrome ◽  
Feeding Tube ◽  
Subglottic Stenosis ◽  
Tube Placement ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Feeding Tube Placement

Objective: To describe the incidence of percutaneous enteral feeding in patients with 22q11.2 deletion syndrome (22q11.2 DS) and determine factors associated with the need for percutaneous enteral feeding tube placement. Design: Retrospective chart review. Methods: The records of a 22q11.2 DS clinic and pediatric otolaryngology clinic at a tertiary pediatric hospital were reviewed from January 1, 2009, to December 31, 2019. All patients with confirmed 22q11.2 deletion were identified. Cardiac, otolaryngological, and feeding characteristics were recorded along with surgical history. A patient was defined to have a G-tube if the history was significant for any percutaneous gastric feeding tube placement, including a gastrostomy tube, gastrostomyjejunostomy tube, or a Mickey button. Results: One hundred ninety patients with confirmed 22q11.2 DS by genetic testing were included. Thirty-three percent (n = 63) required G-tube placement. G-tube placement was associated with cardiac diagnosis ( P < .01), history of cardiac surgery ( P < .01), aspiration ( P < .01), nasopharyngeal reflux ( P < .01), subglottic stenosis ( P < .01), laryngeal web ( P = .003), and tracheostomy ( P < .01). This suggests these conditions are associated with higher rates of G-tube placement in the 22q11.2 DS population. Conclusions: Patients with 22q11.2 DS often require supplemental nutritional support in the form of G-tube feeding, most often in the first year of life. Congenital heart abnormalities and surgery along with tracheostomy, subglottic stenosis, laryngeal web, aspiration, and nasopharyngeal reflux are significantly associated with the need for G-tube placement. Understanding associations between comorbid conditions and G-tube placement, especially those involving the head and neck, may assist with counseling of patients with 22q11.2 DS.

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