Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay

Turan B., AKINCI M. A., ESİN İ. S., Dursun O. B.

EURASIAN JOURNAL OF MEDICINE, vol.52, no.2, pp.229-230, 2020 (ESCI) identifier identifier identifier

  • Publication Type: Article / Letter
  • Volume: 52 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.5152/eurasianjmed.2020.18448
  • Journal Name: EURASIAN JOURNAL OF MEDICINE
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.229-230
  • Keywords: Children with special needs, developmental delay, microdeletion syndromes, CRITICAL REGION, 8Q22.1
  • Karadeniz Technical University Affiliated: No

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.