Evidence map›Paper›PMID 42265646›Full record

ArticleBMC pregnancy and childbirth2026

Early neonatal death due to prenatally undiagnosed congenital subglottic stenosis in Noonan syndrome.

Maolee Bhuwapathanapun, Supakorn Chaiyakarn, Atcharaporn Pongtippan, Sirawich Arunotai, Piya Chaemsaithong, Puntabut Warintaksa, Patama Promsonthi, Saisuda Noojarern, Duangrurdee Wattanasirichaigoon

Abstract readCase Reports
In one paragraph

Article in BMC pregnancy and childbirth, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

9 authors.

Maolee BhuwapathanapunDivision of Maternal-fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. maolee.bhu@mahidol.ac.th.
Supakorn ChaiyakarnDivision of Maternal-fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Atcharaporn PongtippanDepartment of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Sirawich ArunotaiDepartment of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Piya ChaemsaithongDivision of Maternal-fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Puntabut WarintaksaDivision of Maternal-fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Patama PromsonthiDivision of Maternal-fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Saisuda NoojarernDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Duangrurdee WattanasirichaigoonDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. duangrurdee.wat@mahidol.ac.th.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionCongenital subglottic stenosis is a rare malformation of the laryngeal airway. In its severe forms, it can result in immediate neonatal respiratory failure and death if not managed emergently at birth. CASE PRESENTATION: A pregnant woman, whose fetus was suspected of having Noonan syndrome, underwent a cesarean delivery. Notably, subglottic stenosis was not detected on prenatal imaging. The neonate exhibited immediate and severe respiratory distress, and upper airway obstruction was diagnosed during neonatal resuscitation, leading to failed intubation and subsequent neonatal demise. The post-mortem examination revealed cartilaginous subglottic stenosis and type C tracheoesophageal (TE) fistula. Exome sequencing identified a de novo, c.923 A>G, PTPN11 pathogenic variant.

conclusionThe pitfalls in prenatal diagnosis and genetic counseling could raise awareness of possible lethal upper airway obstruction in Noonan syndrome patients. Comprehensive prenatal evaluation and diagnosis are critical to ensuring appropriate neonatal resuscitation.

Indexed as

LaryngostenosisNoonan SyndromePerinatal DeathTracheoesophageal FistulaAdultAirway ObstructionCesarean SectionFatal OutcomeFemaleHumansInfant, NewbornPregnancyPrenatal DiagnosisProtein Tyrosine Phosphatase, Non-Receptor Type 11Protein Tyrosine Phosphatase, Non-Receptor Type 11PTPN11 protein, humanCongenital subglottic stenosisNoonan syndromePTPN11

Identifiers

PMID42265646
PMCPMC13474899

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.