title: Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with Fraser syndrome.
abstract: We describe a 25-week-old female fetus of consanguineous parents with ultrasonographic findings of increased echogenicity of lungs mimicking CAM (cystic adenomatoid malformation) type III, olygohydramnios and fetal ascites. A therapeutic abortion was performed and unilateral cryptophthalmos, laryngeal atresia and bilateral syndactyly of the hands and feet were observed at post-mortem. These findings confirmed the diagnosis of Fraser syndrome after abortion.
authors.affiliation: Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. faltin@gen.hun.edu.tr
authors.forename: S
authors.initials: S
authors.lastname: Balci
authors.forename: G
authors.initials: G
authors.lastname: Altinok
authors.forename: F
authors.initials: F
authors.lastname: Ozaltin
authors.forename: D
authors.initials: D
authors.lastname: Aktaş
authors.forename: E A
authors.initials: EA
authors.lastname: Niron
authors.forename: B
authors.initials: B
authors.lastname: Onol
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001201:Ascites / Q000209:etiology*; D015615:Cystic Adenomatoid Malformation of Lung, Congenital / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D007830:Larynx / Q000002:abnormalities*; D016104:Oligohydramnios / Q000000981:diagnostic imaging*; D013576:Syndactyly / Q000000981:diagnostic imaging; D013577:Syndrome; D016216:Ultrasonography, Prenatal