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Otocephaly Diagnosed Prenatally: A Case Study of a Rare Congenital Defect.
Birth Defects Res
December 2024
Department of Obstetrics and Gynecology, Perinatology unıt of Elazığ City Hospital, Elazığ, Turkey.
Background: Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion, microstomia with oroglossal hypoplasia or aglossia. It has a very bad prognosis and can arise alone or in conjunction with heart defects and forebrain abnormalities.
Case Report: A standard second-trimester ultrasound exam was recommended for, a 23-year-old primigravida woman who was at 22 weeks gestation.
Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report.
Am J Case Rep
May 2023
Department of Obstetrics/Gynecology, Showa University Koto Toyosu Hospital, Tokyo, Japan.
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.
View Article and Find Full Text PDFAgnathia-Otocephaly Complex Due to a De Novo Deletion in the Gene.
Genes (Basel)
December 2022
ALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.
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.
View Article and Find Full Text PDFPrenatal Diagnosis of Otocephaly: A Rare Facial Anomaly.
J Obstet Gynaecol India
August 2022
Resolution Fetal Medicine Centre and Research Institute, Hyderabad, Telangana India.
Introduction: Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and microstomia (small oral aperture). This results due to failure of migration of the neural crest cells and is a defect of the first branchial arch. It is incompatible with life and early prenatal diagnosis is useful.
View Article and Find Full Text PDFAdvances in prenatal diagnosis of fetal otocephaly by 3D imaging.
BMJ Case Rep
April 2022
Obstetrics, Kantonsspital, Sankt Gallen, SG, Switzerland.
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.
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