title: Prenatal sonographic diagnosis of isolated agnathia: a case report.
abstract: Agnathia is a rare malformation characterized by the absence of the mandible, microstomia, aplasia or hypoplasia of the tongue, and low-set or medially fused ears. It occurs alone or in combination with a variety of malformations such as holoprosencephaly. All previous cases of the prenatal diagnosis of agnathia have been accompanied with fatal anomalies. We report here the first case of isolated agnathia, which was diagnosed by prenatal sonography at 32 weeks of gestation. In this case, prenatal sonographic examination showed the severe defect of the chin, small opening of the mouth and severe polyhydramnios. There was no sonographic evidence of holoprosencephaly or anomalies in other organ systems. The diagnosis was confirmed postnatally.
authors.affiliation: Department of Obstetrics and Gynecology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea. shyang@smc.samsung.co.kr
authors.forename: S H
authors.initials: SH
authors.lastname: Yang
authors.forename: Y S
authors.initials: YS
authors.lastname: Seo
authors.forename: Y S
authors.initials: YS
authors.lastname: Lee
authors.forename: S J
authors.initials: SJ
authors.lastname: Choi
authors.forename: Y A
authors.initials: YA
authors.lastname: Kim
authors.forename: J H
authors.initials: JH
authors.lastname: Kim
mesh_terms: D000328:Adult; D001934:Branchial Region / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D008334:Mandible / Q000002:abnormalities*; D011247:Pregnancy; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities; D016216:Ultrasonography, Prenatal