Roberts-SC syndrome, a rare syndrome and cleft palate repair

Abstract

Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

In the Shadows of Rarity: A Case Report of Syndromic Cleft Lip and Palate!

“…Camptodactyly is characterized by flexion contracture of the proximal interphalangeal joint, i.e., the presence of bent digits of hands and feet. Other features which may or may not be present in this condition are scoliosis, ptosis, and mental retardation [ 14 ]. The primary features of Gordon syndrome were seen in the above case; however, a severe form of the cleft defect was seen in the patient.…”

Roberts syndrome with tetraphocomelia: A case report and literature review

“…John Roberts in 1919 first described the disease in a case of a male neonate with bilateral cleft lip and tetraphocomelia. Later, Apeltz 4 in 1964 described it as a syndrome. In 1969, Herman described it as pseudothalidomide syndrome or phocomelia syndrome because of the presence of shortened limbs.…”

“…5 Only about 150 cases have been described in literature in the world over. 4,6,7 Roberts syndrome occurs equally in both males and females, and is common among closely related parents (parental consanguinity). The etiologies are not known but have been related to parental consanguinity with cytogenetic premature centromere separation (PCS) present in most of the cases.…”