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Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report
Farideh Keypour1, Ilana Naghi2, Babak Behnam3
1Department of Obstetrics and Gynecology, Tehran University of Medical Sciences, Tehran, Iran.
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.
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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