{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:49:28Z","timestamp":1782362968031,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,21]],"date-time":"2022-05-21T00:00:00Z","timestamp":1653091200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>HIDEA (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities) syndrome is a rare and novel disease. We describe a premature patient who required extensive work up for his hypoventilation with a diagnosis of HIDEA syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Description<\/jats:title><jats:p>The patient was born to a pair of consanguineous parents at 32\u2010week gestation. His intermittent bradypnoea requiring significant respiratory support during his postnatal clinical course was atypical for bronchopulmonary dysplasia and this required further extensive work up to look for a cause for his hypoventilation. A trio whole exon sequencing was done which identified homozygous variants in P4HTM, in keeping with the diagnosis of autosomal recessive HIDEA syndrome. He is currently doing well on BiPAP 18 cm H2O \/ 8 cm H2O, Rate 30 breaths per minute in room air and full nasogastric feeding. He also has cortical blindess and severe global developmental delay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Early diagnosis is crucial to optimise adequate ventilatory management including early tracheostomy as many require lifelong continuous or intermittent ventilation. This minimises the complications of chronic hypoxia and reduces mortality risk.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.25966","type":"journal-article","created":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T04:13:52Z","timestamp":1652328832000},"page":"1826-1829","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant"],"prefix":"10.1002","volume":"57","author":[{"given":"Alicia May","family":"Lim","sequence":"first","affiliation":[{"name":"Department of Neonatology KK Women's &amp; Children's Hospital Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pih Lin","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Neonatology KK Women's &amp; Children's Hospital Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirmal Kavalloor","family":"Visruthan","sequence":"additional","affiliation":[{"name":"Department of Neonatology KK Women's &amp; Children's Hospital Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikki","family":"Fong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Genetics Service KK Women's &amp; Children's Hospital Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guadalupe Cara","family":"Viegelmann","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, General Paediatrics Service KK Women's &amp; Children's Hospital Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7679-3842","authenticated-orcid":false,"given":"Yi Hua","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Respiratory Medicine Service KK Women's &amp; Children's Hospital Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01460-2"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41372-021-01010-z"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1320"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/24745332.2018.1494991"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_7_1","unstructured":"GENETIC TESTING AND GENETIC RESEARCH A REPORT BY THE BIOETHICS ADVISORY COMMITTEE SINGAPORE.2005.https:\/\/www.bioethics-singapore.gov.sg\/files\/publications\/reports\/genetic-testing-and-genetic-research-full-report.pdf"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61885"},{"key":"e_1_2_9_9_1","unstructured":"RahikkalaE MyllykoskiM HinttalaR et al.Biallelic loss\u2010of\u2010function P4HTM gene variants cause hypotonia hypoventilation intellectual disability dysautonomia epilepsy and eye abnormalities (HIDEA syndrome).Genet Med\u2010doi:10.1038\/s41436"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-00932-8"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.07.002"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.25966","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ppul.25966","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.25966","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T11:34:01Z","timestamp":1704972841000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.25966"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,21]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1002\/ppul.25966"],"URL":"https:\/\/doi.org\/10.1002\/ppul.25966","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,21]]},"assertion":[{"value":"2022-04-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}