title: Characterization of the ocular findings in the nablus masklike facial syndrome.
abstract: 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.
authors.affiliation: Division of Plastic Surgery, University of California Davis, Sacramento, California. Electronic address: Samuel.lance@ucdavis.edu.
authors.forename: Samuel
authors.initials: S
authors.lastname: Lance
authors.affiliation: Division of Plastic Surgery, University of California Davis, Sacramento, California.
authors.forename: Granger
authors.initials: G
authors.lastname: Wong
authors.affiliation: Kapiolani Medical Center for Women & Children, Honolulu, Hawaii.
authors.forename: David
authors.initials: D
authors.lastname: Young
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D016569:Blepharophimosis / Q000175:diagnosis*; D002648:Child; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D004774:Entropion / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005140:Eyelashes / Q000002:abnormalities*; D005143:Eyelids / Q000002:abnormalities*; D006801:Humans; D008297:Male