Roberts syndrome presenting with bilateral Cryptophthalmos: a case report.

Abstract

Roberts syndrome (RBS) is a rare autosomal recessive cohesinopathy caused by pathogenic ESCO2 variants and characterized by severe growth restriction, limb reduction defects, and craniofacial anomalies. Cryptophthalmos is classically associated with Fraser syndrome and is not well described in RBS. We report a 7-day-old male neonate born to consanguineous parents who presented with respiratory distress, poor feeding, severe growth restriction, symmetrical limb reduction defects, ambiguous genitalia, and bilateral cryptophthalmos. Prenatal ultrasonography identified limb and genitourinary anomalies. Postnatal evaluation demonstrated multisystem involvement, including horseshoe kidney with hydronephrosis. Molecular testing identified a homozygous pathogenic ESCO2 variant, confirming Roberts syndrome. Although cryptophthalmos initially raised concern for Fraser syndrome, the overall phenotype and genetic findings supported RBS. This case expands the recognized phenotypic spectrum of Roberts syndrome and highlights the importance of molecular testing in complex congenital presentations.