Profound Intrauterine Growth Restriction (IUGR) Due to Donohue Syndrome: the Story of One Family

Abstract

We describe the obstetric care delivered to a woman over the course of three pregnancies during which time she and her partner were diagnosed as carriers of a rare autosomal recessive disorder: Donohue syndrome. She went on to deliver two affected children and one child who was unaffected. The first baby was growth restricted in utero and had many classical clinical and biochemical features of the syndrome. This infant died at the age of five months. The mother declined prenatal testing in her subsequent pregnancies. Fortunately, she was to deliver a healthy baby in her second pregnancy. However, her third pregnancy was again complicated by severe intrauterine growth restriction. She was delivered of the second affected baby who again demonstrated many of the features and abnormalities associated with Donohue syndrome. This baby died at thirteen months of age. The process leading to the diagnosis, the ultrasound growth charts related to affected and unaffected fetuses and the implications for subsequent management are described.