Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.

Yahya A Alyahya, Ehab Y Alsirhy, Saeed F Alwadani, Tariq A Al-Anazi, Altaf A Kondkar, Taif A Azad

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Article in Annals of medicine and surgery (2012), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Yahya A AlyahyaOphthalmology Department, King Saud University, College of Medicine, Riyadh, Saudi Arabia.ORCID https://orcid.org/0009-0004-3711-5546

Ehab Y AlsirhyGlaucoma and Cataract Consultant, Ophthalmology Department, King Saud University, College of Medicine, Riyadh, Saudi Arabia.

Saeed F AlwadaniOphthalmology Consultant, Ophthalmology Department, King Saud University, College of Medicine, Riyadh, Saudi Arabia.

Tariq A Al-AnaziOphthalmology Department, King Saud University, College of Medicine, Riyadh, Saudi Arabia.

Altaf A KondkarDepartment of Ophthalmology, Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Taif A AzadDepartment of Ophthalmology, Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction and importance: Nicolaides-Baraitser syndrome (NCBRS) is a rare autosomal dominant disease characterized by developmental delay, distinctive craniofacial features, sparse hair, and is caused by Case presentation: We report the case of an 11-year-old male with NCBRS presenting with bilateral congenital glaucoma. The diagnosis was based on clinical presentation, such as attention deficit hyperactivity disorder, cognitive delay, and characteristic craniofacial features, and confirmed by the presence of a Clinical discussion: This case of a child with bilateral congenital glaucoma contributes further evidence of abnormal ocular features associated with the phenotypic spectrum of NCBRS, marking only the third such case reported in the literature. Conclusion: This rare association of NCBRS with bilateral congenital glaucoma highlights the importance of ophthalmologic screening in patients with NCBRS.

Indexed as

case reportchildhood glaucomaNCBRSophthalmologySMARCA2

Identifiers

PMID41497020

DOI10.1097/MS9.0000000000004499

PMCPMC12768013

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