Prenatal detection of Fraser syndrome without cryptophthalmos: case reportand review of the literature

Fraser syndrome (cryptopbthalmos-syndactyly syndrome) is an autosomal reces sive multiple malformation syndrome whose major manifestations are cryptoph thalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyp erechogenic lungs contrasted by oligohydramnios, non-visualization of the k idneys 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 m alformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway ob struction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeare d normal. These findings together with those of the previously affected chi ld led to the diagnosis of Fraser syndrome. The parents elected to terminat e the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but du e to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.