{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T05:39:07Z","timestamp":1792733947695,"version":"4.5.0"},"reference-count":35,"publisher":"Georg Thieme Verlag KG","issue":"03","license":[{"start":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T00:00:00Z","timestamp":1655942400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["AJP Rep"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a neonate with early onset apnea and bradycardia in the absence of primary cardiorespiratory and central nervous system disorders that eventually required chronic ventilator support starting at 6\u2009hours of life. Molecular testing of paired-like homeobox 2b (PHOX2B) gene mutation confirmed the diagnosis of congenital central hypoventilation syndrome (CCHS). CCHS is a rare genetic disorder characterized by impaired central respiratory control with or without broad spectrum of autonomic nervous system (ANS) dysregulations. Ocular ANS dysregulation is a rare finding in CCHS individuals, and it is usually discovered later in life. However, the ophthalmic evaluation of this neonate on first day of life revealed persistent mild dilated oval pupils with limited light reactivity.<\/jats:p>","DOI":"10.1055\/a-1883-0140","type":"journal-article","created":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T23:06:53Z","timestamp":1656025613000},"page":"e139-e143","source":"Crossref","is-referenced-by-count":2,"title":["A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review"],"prefix":"10.1055","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1864-5897","authenticated-orcid":false,"given":"Mimily","family":"Harsono","sequence":"additional","affiliation":[{"name":"Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandeep","family":"Chilakala","sequence":"additional","affiliation":[{"name":"Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiva","family":"Bohn","sequence":"additional","affiliation":[{"name":"Division of Pediatric Ophthalmology, Department of Ophthalmology, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eniko K.","family":"Pivnick","sequence":"additional","affiliation":[{"name":"Division of Pediatric Ophthalmology, Department of Ophthalmology, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee"},{"name":"Division of Medical Genetic, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massroor","family":"Pourcyrous","sequence":"additional","affiliation":[{"name":"Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2022,9,29]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1186\/s13023-020-01460-2","article-title":"Guidelines for diagnosis and management of congenital central hypoventilation syndrome","volume":"15","author":"H Trang","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1164\/rccm.200807-1069ST","article-title":"An official ATS clinical policy 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