Nablus masklike facial syndrome (NMLFS), characterized by tight, expressionless facial features resembling a mask, was first described in 2000. Since then, 10 cases have been identified with the same phenotype and genotype. Although detailed descriptions of the facial and external ear characteristics unique to the syndrome exist, no clear description of the ocular anatomic findings and management of ocular complications has been detailed. We present a confirmed case of NMLFS with detailed descriptions of the ocular anatomy encountered in this patient and a discussion regarding the clinical significance of these findings.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health