{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:06:00Z","timestamp":1756339560664,"version":"3.44.0"},"reference-count":15,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,1,13]]},"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>About 10% of term neonates present with respiratory distress at birth. The most common aetiologies include transient tachypnoea of the newborn, pneumonia and meconium aspiration syndrome (MAS). Hyaline membrane disease (HMD) in a term infant occurs either as primary HMD, secondary surfactant deficiency or congenital surfactant dysfunction. A detailed history supported with appropriate radiological and laboratory investigations can help a clinician reach a diagnosis. We report a case of surfactant dysfunction disorder which presented as severe MAS and persistent pulmonary hypertension of the newborn. In the infant described, the significant history of a sibling death with severe neonatal respiratory disease led us to think of diffuse developmental lung diseases especially surfactant dysfunction syndromes. Exome sequencing detected a heterozygous missense variation in exon 21 of the ATP binding cassette protein member 3 (<jats:italic>ABCA3<\/jats:italic>) gene. Based on the clinical picture supported with the exome sequencing, a diagnosis of surfactant dysfunction disorder (ABCA3 deficiency) was confirmed.<\/jats:p>","DOI":"10.1136\/bcr-2020-239169","type":"journal-article","created":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T12:35:02Z","timestamp":1611750902000},"page":"e239169","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Surfactant dysfunction disorder masquerading as meconium aspiration syndrome and persistent pulmonary hypertension of the newborn"],"prefix":"10.1136","volume":"14","author":[{"given":"Shelly","family":"Gupta","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Neonatology, Cloudnine Hospital, Gurgaon, Haryana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7835-9724","authenticated-orcid":false,"given":"Gopal","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology, Cloudnine Hospital, Gurgaon, Haryana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manish","family":"Balde","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology, Cloudnine Hospital, Gurgaon, Haryana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjay","family":"Wazir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology, Cloudnine Hospital, Gurgaon, Haryana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,1,27]]},"reference":[{"key":"2025082710253548000_14.1.e239169.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.012"},{"key":"2025082710253548000_14.1.e239169.2","first-page":"2943","article-title":"Evaluation and management of inherited disorders of surfactant metabolism","volume":"123","author":"Hamvas","year":"2010","journal-title":"Chin Med J"},{"key":"2025082710253548000_14.1.e239169.3","doi-asserted-by":"publisher","DOI":"10.1007\/BF02823875"},{"key":"2025082710253548000_14.1.e239169.4","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7211242"},{"key":"2025082710253548000_14.1.e239169.5","unstructured":"Meritano J , Abraham S , Di Pietro S . Respiratory distress syndrome associated with meconium stained amniotic fluid in term and post-term newborns: incidence, risk factors, morbidity, and mortality. 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