P51Prenatal detection of Fraser syndrome without cryptophthalmos

Abstract

BackgroundFraser 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, nonvisualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports.Case reportFraser syndrome was diagnosed at 16.0 weeks gestational age in a women whose previous pregnancy was terminated because of multiple malformations. Abnormal sonographic findings included agenesis of kidneys and bladder, dilated trachea and main bronchi suggestive for high airway obstruction, hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Strikingly, face and cerebral structures appeared normal. However these findings together with the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. No defects of the face could be demonstrated.ConclusionPrenatal 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 at doubt in most cases in which no previous child is affected.