Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay

Eurasian J Med. 2020 Jun;52(2):229-230. doi: 10.5152/eurasianjmed.2020.18448. Epub 2020 Jun 2.

Abstract

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.

Keywords: Children with special needs; developmental delay; microdeletion syndromes.