A child with Roberts syndrome presenting severe craniofacial anomaly

Abstract

Roberts syndrome is a rare congenital anomaly which was described by John Roberts in 1919, also known as pseudothalidomidic or phocomelia. Characterized by skeletal deformities, in particular symmetric reduction of the extremities and craniofacial anomalies such as cleft lip and palate and cranio synostosis presenting more frequently, as well as bilateral symmetric short neck tetraphocomelia or hypomelia and brachydactyly. Its prevalence is unclear. As of now, 150 cases of different racial and ethnic origins have been reported in the literature. The diagnosis of Roberts Syndrome is established by cytogenetic and molecular analysis which show a phenomenon known as premature separation of the centromere or heterochromatin repulsion, constituting the main marker for Roberts syndrome. For any child with limb and craniofacial bone malformations, this syndrome should be considered as a differential diagnosis. The purpose of this study is to present a clinical case of a 2-year-old patient with Roberts Syndrome with a marked craniofacial anomaly.