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Prenatal ultrasound diagnosis of Leroy I cell disease

Leroy I cell disease is a rare autosomal recessive disorder which progressively leads to death within the first decade of life. Invasive prenatal diagnosis is possible but is only undertaken in families who have previously had an affected child. We describe the antenatal ultrasound diagnosis of the disease in a case referred at 30 weeks' gestation for suspected polyhydramnios. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology