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12.04.2022 | Original Article

Surgical insights and management in patients with the 22q11.2 deletion syndrome

verfasst von: Patrick E. McGovern, T. Blaine Crowley, Elaine H. Zackai, Evanette Burrows, Donna M. McDonald-McGinn, Michael L. Nance

Erschienen in: Pediatric Surgery International | Ausgabe 6/2022

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Abstract

Purpose

22q11.2 deletion syndrome (22q11.2DS) can present with a variety challenges to patients and their caregivers, many of which require surgical evaluation and intervention. Surgical needs can also extend long into adulthood, prompting evaluation and intervention throughout development and beyond. Here, we identify common concerns and patient needs associated with the 22q11.2DS from a general surgery perspective, their management, and typical management based on our institution’s experience with 1263 patients.

Methods

1263 patients evaluated and treated at the 22q And You Center at the Children’s Hospital of Philadelphia were enrolled and included in the study, from January 1992 to May 2017 Co-morbidities, procedures, and imaging studies performed were quantified and assessed via descriptive analysis.

Results

Gastroesophageal reflux disease (GERD) and feeding difficulties were the most common surgical issues identified, while gastrostomy tube placement, anorectal procedures, and hernia repairs were the most common surgical interventions performed by general surgeons.

Conclusions

General surgical procedures are commonly needed in this population and are part of the complex needs these patients and their surgeons may encounter in the setting of a 22q11.2DS diagnosis. These findings will help to inform a well-coordinated, multidisciplinary approach to care.

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Titel: Surgical insights and management in patients with the 22q11.2 deletion syndrome
verfasst von: Patrick E. McGovern
T. Blaine Crowley
Elaine H. Zackai
Evanette Burrows
Donna M. McDonald-McGinn
Michael L. Nance
Publikationsdatum: 12.04.2022
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Surgery International / Ausgabe 6/2022
Print ISSN: 0179-0358
Elektronische ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-022-05123-0

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Surgical insights and management in patients with the 22q11.2 deletion syndrome