{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:10:11Z","timestamp":1756314611135,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"2","license":[{"start":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:00:00Z","timestamp":1740182400000},"content-version":"unspecified","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,2,12]]},"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:p>22q11.2 deletion syndrome (22q11.2DS) presents with a wide range of clinical manifestations, posing a diagnostic challenge. When cardinal characteristics, such as conotruncal cardiac anomalies or immunodeficiency, are absent, genetic testing may be delayed, postponing interventions to minimise developmental delay. We present a case of monochorionic monoamniotic identical twins diagnosed with de novo 22q11.2DS around 3\u2009months of life, who lacked major characteristics of the disease. Both infants were admitted and discharged multiple times with consistent concerns for failure to thrive (FTT) and aspiration. Twin B was incidentally found to have asymptomatic hypocalcaemia and hypoparathyroidism, leading to a 22q11.2DS diagnosis. Twin A had no symptoms other than FTT and aspiration. This case encourages considering 22q11.2DS in the differential diagnosis for FTT, even when classic symptoms are absent or delayed in presentation. Early recognition allows for timely intervention and better outcomes.<\/jats:p>","DOI":"10.1136\/bcr-2024-263557","type":"journal-article","created":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T20:05:24Z","timestamp":1740254724000},"page":"e263557","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnosing failure to thrive: 22q11.2 deletion syndrome in identical twins"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-0580-7801","authenticated-orcid":false,"given":"Siena","family":"Vadakal","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Valladares","sequence":"additional","affiliation":[{"name":"University of Florida Department of Pediatrics, Gainesville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Jacobsen","sequence":"additional","affiliation":[{"name":"University of Florida, Gainesville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,2,22]]},"reference":[{"key":"2025082709482052000_18.2.e263557.1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3182060469"},{"key":"2025082709482052000_18.2.e263557.2","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"2025082709482052000_18.2.e263557.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"2025082709482052000_18.2.e263557.4","first-page":"772","article-title":"22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects","volume":"9","author":"Putotto","year":"2022","journal-title":"Children (Basel)"},{"key":"2025082709482052000_18.2.e263557.5","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.1007\/s10875-022-01340-3","article-title":"Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome","volume":"42","author":"Yu","year":"2022","journal-title":"J Clin Immunol"},{"key":"2025082709482052000_18.2.e263557.6","doi-asserted-by":"crossref","first-page":"2532","DOI":"10.1002\/lary.28317","article-title":"Patterns of Dysphagia and Airway Protection in Infants with 22q11.2-Deletion Syndrome","volume":"130","author":"Wong","year":"2020","journal-title":"Laryngoscope"},{"key":"2025082709482052000_18.2.e263557.7","doi-asserted-by":"crossref","first-page":"2665","DOI":"10.1002\/ajmg.a.35426","article-title":"Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children","volume":"158A","author":"Habel","year":"2012","journal-title":"Am J Med Genet A"},{"key":"2025082709482052000_18.2.e263557.8","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/j.ecl.2018.07.007","article-title":"Genetic Disorders of Parathyroid Development and Function","volume":"47","author":"Gordon","year":"2018","journal-title":"Endocrinol Metab Clin North Am"},{"key":"2025082709482052000_18.2.e263557.9","doi-asserted-by":"crossref","DOI":"10.1186\/1755-8166-5-13","article-title":"Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size","volume":"5","author":"Halder","year":"2012","journal-title":"Mol Cytogenet"},{"key":"2025082709482052000_18.2.e263557.10","doi-asserted-by":"crossref","DOI":"10.1186\/s13052-016-0224-0","article-title":"Failure to thrive as presentation in a patient with 22q11.2 microdeletion","volume":"42","author":"Bossi","year":"2016","journal-title":"Ital J Pediatr"},{"key":"2025082709482052000_18.2.e263557.11","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2019.01365","article-title":"The Genetics and Epigenetics of 22q11.2 Deletion Syndrome","volume":"10","author":"Du","year":"2019","journal-title":"Front Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-263557","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:48:28Z","timestamp":1756313308000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-263557"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,2,22]]},"published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1136\/bcr-2024-263557"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-263557","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,2]]}}}