Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Russell SimmersAllison GoodwinHind Al SaifNatario L CouserPublished in: Ophthalmic genetics (2022)
NCBRS frequently presents with well-defined ophthalmic and facial abnormalities. Prompt ophthalmologic evaluation following NCBRS diagnosis may be recommended to screen for several eye disorders. Surgical correction of ptosis may be indicated for NCBRS patients. This report may help further delineate the phenotype of this condition, which may allow for more rapid identification of those affected and provide incentive for additional studies.