{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T15:02:42Z","timestamp":1785164562483,"version":"3.55.0"},"reference-count":7,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T00:00:00Z","timestamp":1783814400000},"content-version":"vor","delay-in-days":11,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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.<\/jats:p>","DOI":"10.1093\/omcr\/omag128","type":"journal-article","created":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T22:43:49Z","timestamp":1783896229000},"source":"Crossref","is-referenced-by-count":0,"title":["Roberts syndrome presenting with bilateral Cryptophthalmos: a case report"],"prefix":"10.1093","volume":"2026","author":[{"given":"Muhammad Usman","family":"Fareed","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Nishtar Medical College and Hospital , Nishtar Road, Gillani Colony, Multan, District Multan, Punjab 60000,","place":["Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdur","family":"Rehman","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, King Edward Medical University , Neela Gumbad, Anarkali, Lahore, District Lahore, Punjab 54000,","place":["Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Shehryar","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Allama Iqbal Medical College , Allama Shabbir Ahmed Usmani Road, Quaid-e-Azam Campus, Lahore, District Lahore, Punjab 54550,","place":["Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivam","family":"Singla","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, TidalHealth Peninsula Regional , 100 East Carroll Street, Salisbury, Wicomico County, Maryland 21801,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhavna","family":"Singla","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Erie County Medical Center , 462 Grider Street, Buffalo, Erie County, New York 14215,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-4850-4861","authenticated-orcid":false,"given":"Shabbir","family":"Mazari","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Kabul University of Medical Sciences Abu Ali Ibn Sina , Ata Turk Avenue, Jamal Mena, 3rd District, Kabul 1001,","place":["Afghanistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,7,12]]},"reference":[{"key":"2026072710483538100_ref1","doi-asserted-by":"publisher","first-page":"110750","DOI":"10.5409\/wjcp.v14.i4.110750","article-title":"Exploring Roberts syndrome, unique manifestations in a four-month-old infant and genetic findings: a case report","volume":"14","author":"Sulaiman","year":"2025","journal-title":"World J Clin 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