A case of rare isolated agnathia and literature review

Alexander, Nicole L.; Chandy, Binoy; Barton, Gregg H.; Liu, Yi‐Chun Carol

doi:10.1002/ajmg.a.61784

Cited by 3 publications

(3 citation statements)

References 32 publications

(65 reference statements)

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“…Other diagnostic methods, such as CT and MRI, have also been employed to provide further details of the malformation. The differential diagnosis of the syndrome encompasses Treacher-Collins syndrome, Goldenhar syndrome, Nager syndrome, and Pierre Robin syndrome [ 1 ].…”

Section: Discussionmentioning

confidence: 99%

“…Alexander et al showed that 9 patients with isolated agnathia survived from 10 months to 27 years. In almost all cases, a tracheostomy was required to manage the acute airway obstruction [1]. Furthermore, Golinko et al reported 4 cases detailing various reconstructive strategies beyond infancy, as well as longitudinal follow-up into adulthood.…”

Section: Requirement Of the Exit Procedures In This Casementioning

confidence: 99%

“…There have been reports of non-lethal isolated AOC cases treated with tracheostomies for airway obstruction management. Otherwise, certain AOC cases could complicate hypoplastic lungs, necessitating an evaluation of lung maturity to attain a more favorable prognosis [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

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Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report

et al. 2023

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Congenital defects/diseases Background:Agnathia-otocephaly complex (AOC) is a rare congenital malformation due to a first-branch arch disorder and has been considered lethal. However, milder variants of the isolated type of AOC have been reported as nonlethal. The ex-utero intrapartum treatment (EXIT) procedure is basically indicated for a fetus with a high risk of airway obstruction immediately after birth; it is not indicated for all AOC cases but is chosen to treat cases until the airway can be evaluated to achieve a better prognosis. Case Report:A 37-year-old woman was referred with reported fetal facial deformity and polyhydramnios at 27 weeks of gestation. Our fetal ultrasound scans showed agnathia, microstomia, and synotia, but not holoprosencephaly. Isolated AOC was diagnosed prenatally. Magnetic resonance imaging and microbubble tests revealed delayed fetal lung maturation, although it was not completely unmatured. With patient agreement, an emergency cesarean section with EXIT was performed because of clinical chorioamnionitis at 35 weeks of gestation.Tracheostomy was attempted for 16 min during EXIT and was completed 4 min after delivery. Despite this, the neonate died 12 h after delivery from severe respiratory failure and a tension pneumothorax caused by a hypoplastic lung. Conclusions:There is controversy surrounding the non-lethality of all isolated AOC cases and the non-contraindication of EXIT procedures. Our case was estimated as the milder variant, and the EXIT procedure was indicated; however, the neonate died of the hypoplastic lung. The evaluation methods of lung maturation are inconsistent, and the indication of the invasive EXIT procedure must be carefully considered.

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Section: Discussionmentioning

confidence: 99%

Section: Requirement Of the Exit Procedures In This Casementioning

confidence: 99%

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Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report

et al. 2023

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Perinatal Airway Management Mandibular Anomalies: A National Inpatient Cohort Analysis

Puricelli,

Barr,

Ellefson

et al. 2024

The Laryngoscope

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ObjectiveTo characterize incidence of mandibular anomalies (MAs) and compare gestational age, airway interventions, and complications among individuals with MA phenotypes (isolated retrognathia, isolated micrognathia, syndromic micrognathia, micrognathia plus cleft palate/cleft lip and palate, agnathia/micrognathia plus cervical auricle/otocephaly, and agnathia/micrognathia plus microstomia) and unaffected individuals.MethodsThe Healthcare Cost and Utilization Project Kids' Inpatient Database was used to collect data over a 20‐year period beginning in 2000. Interventions were classified as perinatal when performed on day of life (DOL) 0 or 1 and subsequent when performed during the birth hospitalization after DOL 1. Hypoxic complications included cardiac arrest, birth asphyxia, hypoxic–ischemic encephalopathy, anoxic brain damage, intraventricular hemorrhage or cerebral infarction. Descriptive statistics are reported, and the Rao‐Scott chi‐square test compared groups.ResultsMAs affected 119 per 100,000 birth visits. Preterm delivery was more frequent for all MA phenotypes. Individuals with MA phenotypes are more likely to require medical attention (airway intervention on DOL 0 or 1 OR no airway intervention received but patient sustained hypoxic complication/mortality): 16.2%–70.7% vs. 3.8%, p < 0.01. Despite receipt of airway interventions at a higher rate, collectively individuals with MAs who received an airway intervention on DOL 0 or 1 have a mildly elevated risk of hypoxic complication or mortality (32.4% vs. 26.4%, p < 0.01).ConclusionsPreterm birth is more common, however, does not account for the elevated rate of airway intervention. Individuals with MAs require higher rates of medical attention, and current airway management paradigms are insufficient to prevent complications and mortality.Level of EvidenceIII Laryngoscope, 2024

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Loss of Baz1b in Mice Causes Perinatal Lethality, Growth Failure, and Variable Multi-System Outcomes

Pai¹,

McIntosh

Knutsen

et al. 2023

Preprint

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A case of rare isolated agnathia and literature review

Cited by 3 publications

References 32 publications

Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report

Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report

Perinatal Airway Management Mandibular Anomalies: A National Inpatient Cohort Analysis

Loss of Baz1b in Mice Causes Perinatal Lethality, Growth Failure, and Variable Multi-System Outcomes

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