Nablus mask-like facial syndrome (NMLFS) is defined by distinctive craniofacial appearance including tight-appearing glistening facial skin, blepharophimosis, telecanthus, severe arched eyebrows, flat and broad nose, long philtrum, distinctive ears, unusual hair patterns, mild developmental delay and “happy” disposition. We aim to report a 7-year-old boy diagnosed with NMLFS and moderate developmental delay. Literature emphasis that Intellectual Disability is common in this syndrome though it has been diagnosed to only a few people worldwide.
Cite this article as: Turan B, Akıncı MA, Esin İS, Dursun OB. Nablus Mask-Like Facıal Syndrome with Moderate Developmental Delay. Eurasian J Med 2020; 52(2): 229-30.