Characterization of the ocular findings in the nablus masklike facial syndrome

Samuel Lance; Granger Wong; David Young

doi:10.1016/j.jaapos.2016.04.010

Characterization of the ocular findings in the nablus masklike facial syndrome

J AAPOS. 2016 Oct;20(5):457-459. doi: 10.1016/j.jaapos.2016.04.010. Epub 2016 Sep 16.

Authors

Samuel Lance¹, Granger Wong², David Young³

Affiliations

¹ Division of Plastic Surgery, University of California Davis, Sacramento, California. Electronic address: Samuel.lance@ucdavis.edu.
² Division of Plastic Surgery, University of California Davis, Sacramento, California.
³ Kapiolani Medical Center for Women & Children, Honolulu, Hawaii.

PMID: 27647115
DOI: 10.1016/j.jaapos.2016.04.010

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Blepharophimosis / diagnosis*
Child
Craniofacial Abnormalities / diagnosis*
Entropion / diagnosis*
Eye Abnormalities / diagnosis*
Eyelashes / abnormalities*
Eyelids / abnormalities*
Humans
Male

Supplementary concepts

Nablus mask-like facial syndrome