PRENATAL DIAGNOSIS OF ROBERT/SC SYNDROME IN A DIABETIC MOTHER WITH A HISTORY OF MEBENDAZOLE AND GLIBENCLAMIDE INTAKE

Abstract

The Robert/SC (pseudothalidomide) syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. An anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects and craniofacial abnormalities is reported whose diabetic mother took mebendazole and glibenclamide in early pregnancy. Ultrasonographic findings of syndromes with phocomelia are discussed as well as Robert/SC syndrome which is the most probable diagnosis. Robert/SC phocomelia syndrome is a rare autosomal recessive condition characterized by severe pre and postnatal growth deficiency, symmetric limb reductions of variable severity and craniofacial anomalies including hypertelorism, hypoplastic nasal alae, cleft lip and palate. About half of the reported cases presented chromosomal abnormalities. We think that findings in our case are consistent with Robert/SC syndrome with additional abnormalities.