Robert’s Syndrome in an 8 Month Infant

Background: Robert’s syndrome is an extremely rare autosomal recessive genetic disorder. The Gene of this syndrome is located on chromosome 8 and it is characterized by craniofacial anomalies and deformity in the limbs. Upper limbs are more involved compared to lower parts. In many cases thumb is involved. This syndrome is also called pseudo-thalidomide syndrome. The affected individuals are smaller pre and post natally, compared to others.
Case Presentation: Here an 8-month-old infant is introduced by prenatal and postnatal growth retardation accompanied by craniofacial and limb anomalies. For whom Robert’s syndrome was diagnosed based on clinical and genetic findings.
Discussion: in infants born with craniofacial anomalies and limb deformities, Robert’s syndrome is one of the options, which is extremely rare and only 150 cases are reported to now. Half of these are mentally retarded and they die in their childhood and their main death cause is not yet described.