Publication:

A rare presentation of Russell–Silver syndrome accompanied by torticollis: a case report

Russell–Silver syndrome (RSS) is a clinically and genetically heterogeneous condition characterized mainly by intrauterine and postnatal growth retardation. It is also associated with several dysmorphic features, such as a triangular face, prominent forehead, body asymmetry, and feeding difficulties. The syndrome is usually sporadic. Because the clinical spectrum is broad, both the frequency and the severity of findings vary among individuals. Here, we present a child who had fifth-finger clinodactyly, growth retardation, body asymmetry, relative macrocephaly, and a triangular facial appearance consistent with RSS, and who also had torticollis a rare accompanying finding.