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P31.04: Antenatal diagnosis of Fraser syndrome without cryptophthalmos at 18 weeks

Fraser syndrome is a rare congenital autosomal recessive syndrome mainly characterized by cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. The incidence has been found to be 0.43 per 100,000 live born infants and 11.06 per 100,000 stillbirths. Enlarged hyperechogenic lungs contrasted by oligohydramnios, nonvisualization of the kidneys and laryngeal atresia were sonographic markers leading to the prenatal detection of this syndrome. We report a case of Fraser syndrome diagnosed at 18 weeks of gestational age in a women whose previous child died because of bilateral renal agenesis. Abnormal sonographic findings included bilateral renal agenesis, bilateral hyperechogenic lung tissue, everted diaphragm, a small heart because of compression by the obstructed lungs, minimal fetal ascites, syndactyly of the fingers and oligohydramnios. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents were consangineous. Family elected to terminate the pregnancy. Autopsy results confirmed the prenatal diagnosis. Prenatal diagnosis of Fraser syndrome is possible.