Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):65-8. doi: 10.3109/13816810.2012.695423. Epub 2012 Jun 14.

Abstract

We describe two siblings with epiphora, telecanthus, expressionless face, thick facial skin, bulky nose and profound sensorineural hearing loss. Constellation of these features presented a phenotypic overlap with Blepharo-naso-facial syndrome (BNFS) and Nablus mask-like syndrome (NMLS). They in addition had posterior helical pits. The molecular basis of NMLS is known, while BNFS remains an elusive disorder. We report the first Indian family with features having significant overlap between the two but we attempt to summarize the frequency of reported features and bring out the most consistent features for these two syndromes for the treating clinician.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Blepharophimosis / diagnosis*
  • Blepharophimosis / genetics
  • Child
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics
  • Eyelids / abnormalities*
  • Face / abnormalities*
  • Humans
  • Male
  • Nose / abnormalities*
  • Phenotype
  • Siblings
  • Syndrome

Supplementary concepts

  • Nablus mask-like facial syndrome