Agnathia-otocephaly complex diagnosed by prenatal ultrasound: a case report

Ji, Xueqin; Zhao, Yuan; Xia, Yan; Wu, Yang; Xu, Rui; Wang, Hairui; Liyan, Feihai

doi:10.21037/tp-21-235

Cited by 3 publications

(3 citation statements)

References 9 publications

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“…It is a rare syndrome and the typical malformations are very difficult to detect in first trimester screening especially in the absence of associated midline defects 5 6. Other case reports have already described the importance of 3D imaging in the diagnosis of fetal otocephaly 10–14. As in our presented case, severe polyhydramnios is in most cases the indication for detailed examination by a specialist and the subsequent diagnosis.…”

Section: Discussionmentioning

confidence: 51%

Advances in prenatal diagnosis of fetal otocephaly by 3D imaging

Kinkel

Rduch²,

Abgottspon³

et al. 2022

BMJ Case Rep

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The case presented here shows the rare diagnosis of fetal otocephaly with lethal prognosis due to impossible airway management after birth. Otocephaly is characterised by fetal agnathia, microstomia and synotia. As in our case, otocephaly is usually not recognised until the third trimester and leads to challenging clinical situations and decision making.A woman in her 30s presented to our tertiary hospital at 27 weeks of gestation because of an unexplained polyhydramnios. 3D imaging illustrated the complex syndrome of otocephaly and helped understand the present disease patterns. After premature birth, palliative care was agreed on and the newborn was able to pass away peacefully in the arms of his parents.We recommend the implementation of 3D imaging into routine scans for the assessment of the fetal face and ears, especially in situations of unexplained polyhydramnios.

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Section: Discussionmentioning

confidence: 51%

Advances in prenatal diagnosis of fetal otocephaly by 3D imaging

Kinkel

Rduch²,

Abgottspon³

et al. 2022

BMJ Case Rep

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“…Prenatal Diagnosis of Isolated AOC Prenatal diagnosis of AOC has been reported through ultrasonography, detecting hypoplastic and absence of the mandible and low-presence ears [8]. Recently, this malformation has also been detected during early pregnancy [9]. Other diagnostic methods, such as CT and MRI, have also been employed to provide further details of the malformation.…”

Section: Discussionmentioning

confidence: 99%

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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“…AOC does not show any predilection to females or males and, as mentioned previously its etiology could be both of genetic or teratogenic origin. In animal models, agnathia otocephaly has been seen spontaneously in teratogen exposure e.g., irradiation, hyperthermia, trypan blue and streptonigrin [ 1 , 24 , 25 ]. Furthermore, case reports in humans have demonstrated cases of AOC associated to the exposure to salicylates, alcohol, radiation, oxymetazoline, mycophenolate, phenytoin, amidopyrine and beclomethasone [ 1 , 5 , 6 , 26 ].…”

Section: Discussionmentioning

confidence: 99%

Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene

Fabiani¹,

Libotte²,

Margiotti³

et al. 2022

Genes

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Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation typically characterized by hypoplasia or the absence of the mandible, ventromedial and caudal displacement of the ears with or without the fusion of the ears, a small oral aperture with or without a tongue hypoplasia. Its incidence is reported as 1 in 70,000 births and its etiology has been attributed to both genetic and teratogenic causes. AOC is characterized by a wide severity clinical spectrum even when occurring within the same family, ranging from a mild mandibular defect to an extreme facial aberration incompatible with life. Most AOC cases are due to a de novo sporadic mutation. Given the genetic heterogeneity, many genes have been reported to be implicated in this disease but to date, the link to only two genes has been confirmed in the development of this complex: the orthodenticle homeobox 2 (OTX2) gene and the paired related homeobox 1 (PRRX1) gene. In this article, we report a case of a fetus with severe AOC, diagnosed in routine ultrasound scan in the first trimester of pregnancy. The genetic analysis showed a novel 10 bp deletion mutation c.766_775delTTGGGTTTTA in the OTX2 gene, which has never been reported before, together with a missense variant c.778T>C in cis conformation.

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Agnathia-otocephaly complex diagnosed by prenatal ultrasound: a case report

Cited by 3 publications

References 9 publications

Advances in prenatal diagnosis of fetal otocephaly by 3D imaging

Advances in prenatal diagnosis of fetal otocephaly by 3D imaging

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

Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene

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