Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
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 PDFFree Fibula Flap for the Treatment of Agnathia in a 10-Year-Old With Severe Agnathia-Otocephaly Complex.
J Craniofac Surg
January 2023
Hansjörg Wyss Department of Plastic Surgery, NYU Langone Health.
Agnathia-otocephaly complex (AOC), a first branchial arch defect, is characterized by mandibular hypoplasia or aplasia, ear abnormalities, microstomia, and macroglossia and is a rare and often fatal diagnosis. Herein, the technical considerations and details of mandibular reconstruction using virtual surgical planning (VSP) and a vascularized free fibula flap for further mandibular reconstruction in a 10-year-old boy are presented. The patient's preoperative examination was consistent with agnathia (absence of mandibular symphysis, bilateral mandibular bodies, condyles, coronoids, rami, and temporomandibular joint), severe microstomia, and a Tessier # 30 cleft (maintained to allow oral access until later in treatment).
View Article and Find Full Text PDFAgnathia-otocephaly complex diagnosed by prenatal ultrasound: a case report.
Transl Pediatr
August 2021
Department of Ultrasound, Ningxia Hui Autonomous Region Maternity and Child Health Hospital & Ningxia Children's Hospital, Yinchuan, China.
Article Synopsis
- - Agnathia-otocephaly complex (AOC) is a serious craniofacial condition that involves underdeveloped jaws, fused ears, and small mouth, often linked with other severe health issues and a poor outlook for patients.
- - A case of AOC was identified during a fetal scan at 25 weeks, revealing significant abnormalities such as a missing jaw and abnormal ear placement, alongside other concerning features like excessive amniotic fluid.
- - Diagnosis of AOC relied on both 2D and 3D ultrasounds, which highlighted difficulties in observing mandible and ear development, leading to a definitive identification of the condition before abortion was performed.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!