Unique Roberts syndrome with bilateral congenital glaucoma: A case report

Abstract

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.

Keywords: Roberts syndrome; Roberts-SC phocomelia syndrome; Phocomelia; Congenital glaucoma; Karyotype; Whole exome sequencing; Case report

Core Tip: Roberts syndrome (RS) is an extremely rare disease characterized by a combination of deformities in the lower and/or upper extremities in association with other organ abnormalities. We provide here the first reported case of RS associated with bilateral congenital glaucoma. Bilateral non-penetrating glaucoma surgery was performed to control intraocular pressure and the outcome was excellent.