title: Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.
abstract: Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.
authors.affiliation: Division of Prenatal Medicine, Department of Obstetrics and Gynecology, Medical University, Lübeck, Germany. christophberg@hotmail.com
authors.forename: C
authors.initials: C
authors.lastname: Berg
authors.forename: A
authors.initials: A
authors.lastname: Geipel
authors.forename: U
authors.initials: U
authors.lastname: Germer
authors.forename: A
authors.initials: A
authors.lastname: Pertersen-Hansen
authors.forename: M
authors.initials: M
authors.lastname: Koch-Dörfler
authors.forename: U
authors.initials: U
authors.lastname: Gembruch
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D011247:Pregnancy; D013576:Syndactyly / Q000000981:diagnostic imaging*; D013577:Syndrome; D016216:Ultrasonography, Prenatal