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

  • Ilana Naghi Department of Obstetrics and Gynecology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Babak Behnam Department of Medical Genetics, Tehran University of Medical Sciences.
Keywords: Autosomal Recessive, Cleft Lip & Cleft Palate, Phocomelia


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.


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How to Cite
Naghi I, Behnam B. Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report. J Fam Reprod Health. 7(1):45-7.
Case Reports