Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report.

Abstract

A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.

Keywords

• Autosomal Recessive
• Cleft Lip & Cleft Palate
• Phocomelia