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Antenatal Sonographic Features of Perlman Syndrome

Perlman syndrome is a rare fetal overgrowth disorder characterized by visceromegaly, renal lesions, distinctive facial features, and high neonatal mortality. Sonographic features previously described include macrosomia, polyhydramnios, and visceromegaly We report a case of Perlman syndrome and review the sonographic findings in earlier cases of Perlman syndrome, with comparison with Beckwith-Wiedemann syndrome (BWS) and Simpson-Golabi-Behmel syndrome (SGBS).