ABSTRACT

Roberts/SC phocomelia syndrome is a rare, autosomal recessive syndrome that results from a mutation of the ESCO2 gene on 8p21.1 and is characterised by prenatal and postnatal growth retardation, microcephaly, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity. A 38-week-gestation neonate weighing 2100 g was born by vaginal delivery and demonstrated the evidence of tetra-amelia, intrauterine growth retardation, microcephaly, midfacial capillary hemangioma, hypoplastic nasal alae, hypertelorism, micrognathia, malformed ears with absent lobules, large phallus and ambiguous genitalia. This case report was presented to draw attention to the Roberts/SC phocomelia syndrome which is seen rarely, has high risk of reccurence and prenatal diagnosis of syndrome may be possible in the early gestational weeks.