Otocephaly Diagnosed Prenatally: A Case Study of a Rare Congenital Defect

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research Pub Date : 2024-12-19 DOI:10.1002/bdr2.2421

Birsen Konukcu

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引用次数: 0

Abstract

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. The oral fissure was “pinhole-shaped,” the mouth was incredibly small, and the usual lower jaw and lower lip had vanished from the S-curve. On the front of the neck were the two ears. Amniocentesis revealed a 46,XY normal karyotype. The family opted for a medically assisted termination. At 23 weeks, the pregnancy was ended by vaginal delivery. Observation of the specimen revealed that the ear placements were remarkably low, and the specimen's observation revealed that the two earlobes were joined at the front of the neck.

Conclusion

Identifying the development of the mandible and locating auricles during prenatal ultrasound diagnosis was particularly challenging could be a better way to phrase this like in our recent example, the combination of two-dimensional and three-dimensional ultrasound was able to confirm the prenatal diagnosis of AOC.

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.