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Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.

Bahadir TuranMehmet Akif AkinciIbrahim Selcuk EsinOnur Burak Dursun
Published in: The Eurasian journal of medicine (2020)
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.
Keyphrases
  • intellectual disability
  • soft tissue
  • autism spectrum disorder
  • case report
  • high intensity
  • early onset
  • blood brain barrier
  • drug induced
  • sleep apnea