Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review

J Clin Pediatr Dent. 2023 May;47(3):103-108. doi: 10.22514/jocpd.2023.028. Epub 2023 May 3.

Abstract

Nablus mask-like facial syndrome (NMLFS) (OMIM: 608156) is an extremely rare genetic syndrome first reported by Ahmad Teebi in 2000. Although it is a rare condition, it is characterized by distinctive facial features such as, expressionless facial appearance, tight, glistening facial skin, low anterior hairline, sparse eyebrows, small palpebral fissures (blepharophimosis), hypertolerism, bulbous nose with prominent columella, abnormally short nose and flat nasal bridge, abnormal ear configuration, bilateral longitudinal cheek dimples, everted lower lip, long philtrum, and maxillary hypoplasia. In addition, a happy and friendly disposition is considered to be the common symptom of this syndrome. Previous studies revealing the intraoral findings of this rare symptom are inadequate and the present report is the first one that presents a dental case involving Nablus syndrome in detail. The aim of this report is to contribute to the current literature through our oral findings in an NMFLS patient, presented at our clinic with toothache and through our treatment approach.

Keywords: Caries lesion; Cleft palate; Enamel hypoplasia; Microdeletion; Nablus mask-like facial syndrome (NMLFS).

Publication types

  • Review
  • Case Reports

MeSH terms

  • Blepharophimosis* / diagnosis
  • Blepharophimosis* / genetics
  • Craniofacial Abnormalities* / diagnosis
  • Craniofacial Abnormalities* / genetics
  • Dental Care
  • Face / abnormalities
  • Humans

Supplementary concepts

  • Nablus mask-like facial syndrome