Characterization of the ocular findings in the nablus masklike facial syndrome

Samuel Lance, Granger Wong, David Young

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)457-459
Number of pages3
JournalJournal of AAPOS
Volume20
Issue number5
DOIs
StatePublished - Oct 1 2016

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External Ear
Masks
Anatomy
Genotype
Phenotype

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

Cite this

Characterization of the ocular findings in the nablus masklike facial syndrome. / Lance, Samuel; Wong, Granger; Young, David.

In: Journal of AAPOS, Vol. 20, No. 5, 01.10.2016, p. 457-459.

Research output: Contribution to journalArticle

Lance, Samuel ; Wong, Granger ; Young, David. / Characterization of the ocular findings in the nablus masklike facial syndrome. In: Journal of AAPOS. 2016 ; Vol. 20, No. 5. pp. 457-459.
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