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Published on: September 20, 2018

Roberts syndrome presenting with bilateral Cryptophthalmos: a case report

Muhammad Usman Fareed1, Abdur Rehman2, Abdullah Shehryar3

  • 1Department of Internal Medicine, Nishtar Medical College and Hospital, Nishtar Road, Gillani Colony, Multan, District Multan, Punjab 60000, Pakistan.

Oxford Medical Case Reports
|July 13, 2026
PubMed
Summary

Roberts syndrome (RBS), a cohesinopathy from ESCO2 variants, typically presents with growth restriction and limb defects. This case highlights cryptophthalmos as a rare RBS feature, emphasizing molecular testing for accurate diagnosis.

Keywords:
ESCO2Roberts syndromecohesinopathycongenital anomaliescryptophthalmos

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