Pseudo-Roberts Syndrome: An Entity or Not?

Salari, Behzad; Dehner, Louis P.

doi:10.1080/15513815.2020.1827320

Cited by 1 publication

(2 citation statements)

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“…Worldwide about 157 cases of RS have been reported, and the most recent case was published in October 2020 regarding a 30-wk gestation stillborn male who had the typical phenotype of RS with a normal molecular analysis[ 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…WES revealed no abnormalities in the ESCO2 gene (linked to RS) or the CYP1B1 and LTBP2 genes (linked to primary congenital glaucoma). Although this patient had normal molecular study findings, the diagnosis of RS can be established based on the phenotype because RS cases without any molecular abnormality have been reported in the literature[ 5 ].…”

Section: Discussionmentioning

confidence: 99%

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Unique Roberts syndrome with bilateral congenital glaucoma: A case report

Almulhim,

Almoallem,

Alsirrhy

et al. 2023

World J Clin Cases

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BACKGROUND Congenital glaucoma associated with Roberts syndrome (RS) is an unusual and unique condition. No previous report describes this association. A multidisciplinary approach including molecular studies were conducted to reach the final diagnosis. CASE SUMMARY We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma, left ectopic kidney, and left-hand rudimentary digits. A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo. Cytogenetic and molecular testing were conducted and revealed normal measurements. CONCLUSION This report described a case of a male baby with clinical features of RS but with a negative molecular analysis, presenting with left-hand rudimentary digits, bilateral congenital glaucoma, and left ectopic kidney. To the best of our knowledge, this is the first case reported with phocomelia, bilateral congenital glaucoma, and unilateral ectopic kidney.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%