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

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 withBlepharo-naso-facial syndrome (BNFS) and Nablus mask-like syndrome (NMLS). They in addition hadposterior 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.

KEYWORDS::

• Blepharo-naso-facial syndrome
• Nablus mask-like syndrome

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.