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      Airway management and quadratus lumborum block for inguinal hernia repair in context of chromosome 4q deletion: A case report

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          Abstract

          Key Clinical Message

          Chromosome 4q Deletion Syndrome (4QDS) is a rare chromosomal deletion that presents with various congenital defects that could affect anesthetic management. We present a patient with known 4QDS who underwent successful general anesthetic induction, tracheal intubation, and subsequently, bilateral quadratus lumborum nerve blocks, during laparoscopic inguinal hernia repair surgery.

          Abstract

          Chromosome 4q deletion syndrome (4QDS) is a rare chromosomal deletion with the potential for congenital defects that could affect the anesthetic management of affected patients, specifically with inconsistent reports of possible laryngeal narrowing which could precipitate intubation difficulties. We present a report of a patient with known 4QDS who underwent successful general anesthetic induction and tracheal intubation, followed by subsequent bilateral quadratus lumborum nerve blocks, in the context of laparoscopic inguinal hernia repair surgery. Given the inconsistent presentation of patients with 4QDS reported in the literature, steps were taken to exercise sufficient caution concerning the overall management of this patient per the most recent guidelines for pediatric patients.

          Abstract

          A patient with known Chromosome 4q Deletion Syndrome who presented for a procedure requiring tracheal intubation and general anesthesia. The patient had characteristic facial features without laryngeal abnormalities allowing for a safe sedation and recovery.

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          Most cited references11

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          2022 American Society of Anesthesiologists Practice Guidelines for Management of the Difficult Airway

          The American Society of Anesthesiologists; All India Difficult Airway Association; European Airway Management Society; European Society of Anaesthesiology and Intensive Care; Italian Society of Anesthesiology, Analgesia, Resuscitation and Intensive Care, Learning, Teaching and Investigation Difficult Airway Group; Society for Airway Management; Society for Ambulatory Anesthesia; Society for Head and Neck Anesthesia; Society for Pediatric Anesthesia; Society of Critical Care Anesthesiologists; and the Trauma Anesthesiology Society present an updated report of the Practice Guidelines for Management of the Difficult Airway.
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            Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.

            Chromosome 4q deletion syndrome (4q- syndrome) is a rare condition, with an estimated incidence of 1 in 100,000. Although variable, the clinical spectrum commonly includes craniofacial, developmental, digital, skeletal, and cardiac involvement. Data on the genotype-phenotype correlation within the 4q arm are limited. We present detailed clinical and genetic information by array CGH on 20 patients with 4q deletions. We identified a patient who has a ∼465 kb deletion (186,770,069-187,234,800, hg18 coordinates) in 4q35.1 with all clinical features for 4q deletion syndrome except for developmental delay, suggesting that this is a critical region for this condition and a specific gene responsible for orofacial clefts and congenital heart defects resides in this region. Since the patients with terminal deletions all had cleft palate, our results provide further evidence that a gene associated with clefts is located on the terminal segment of 4q. By comparing and contrasting our patients' genetic information and clinical features, we found significant genotype-phenotype correlations at a single gene level linking specific phenotypes to individual genes. Based on these data, we constructed a hypothetical partial phenotype-genotype map for chromosome 4q which includes BMP3, SEC31A, MAPK10, SPARCL1, DMP1, IBSP, PKD2, GRID2, PITX2, NEUROG2, ANK2, FGF2, HAND2, and DUX4 genes. Copyright © 2012 Wiley Periodicals, Inc.
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              Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

              The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. There is limited clinical phenotype and molecular correlation for congenital heart defects (CHDs) reported so far for this region primarily because many cases are large deletions, often terminal, and because high-resolution array has not been reported in the evaluation of this group of patients. CHDs are reported in about 60% of patients with 4q deletion syndrome, occurring in the presence or absence of dHAND deletion, implying the existence of additional genes in 4q whose dosage influences cardiac development. We report an 8-month-old patient with a large mid-muscular to outlet ventricular septal defect (VSD), moderate-sized secundum-type atrial septal defect (ASD), thickened, dysplastic pulmonary valve with mild stenosis and moderate pulmonic regurgitation, and patent ductus arteriosus (PDA). Illumina CytoSNP array analysis disclosed a de novo, heterozygous, interstitial deletion of 11.6 Mb of genomic material from the long arm of chromosome 4, at 4q32.3-q34.3 (Chr4:167236114-178816031; hg18). The deleted region affects 37 RefSeq genes (hg18), including two provisional microRNA stemloops. Three genes in this region, namely TLL1 (Tolloid-like-1), HPGD (15-hydroxyprostaglandin dehydrogenase), and HAND2 (Heart and neural crest derivatives-expressed protein 2), are known to be involved in cardiac morphogenesis. This report narrows the critical region responsible for CHDs seen in 4q deletion syndrome. Copyright © 2012 Wiley Periodicals, Inc.
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                Author and article information

                Contributors
                asingleton@ecaa.com
                Journal
                Clin Case Rep
                Clin Case Rep
                10.1002/(ISSN)2050-0904
                CCR3
                Clinical Case Reports
                John Wiley and Sons Inc. (Hoboken )
                2050-0904
                11 August 2023
                August 2023
                : 11
                : 8 ( doiID: 10.1002/ccr3.v11.8 )
                : e7765
                Affiliations
                [ 1 ] East Carolina University Brody School of Medicine Greenville North Carolina USA
                [ 2 ] East Carolina Anesthesia Associates Greenville North Carolina USA
                Author notes
                [*] [* ] Correspondence

                Adrienne L. Hutton, East Carolina Anesthesia Associates, 2430 Emerald Pl #103, Greenville, NC 27834, USA.

                Email: asingleton@ 123456ecaa.com

                Author information
                https://orcid.org/0009-0005-0098-8455
                https://orcid.org/0000-0002-2322-8345
                Article
                CCR37765 CCR3-2023-03-0386.R2
                10.1002/ccr3.7765
                10421971
                002f5ff7-e857-466d-8a23-747993abaec5
                © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                : 03 July 2023
                : 01 March 2023
                : 06 July 2023
                Page count
                Figures: 2, Tables: 0, Pages: 4, Words: 2550
                Categories
                Anesthesia
                Genetics and Genomics
                Case Report
                Case Report
                Custom metadata
                2.0
                August 2023
                Converter:WILEY_ML3GV2_TO_JATSPMC version:6.3.2 mode:remove_FC converted:12.08.2023

                challenging pediatric airway,chromosome 4q deletion syndrome,congenital airway malformations,quadratus lumborum block,regional anesthesia

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