Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay

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

EURASIAN JOURNAL OF MEDICINE, cilt.52, sa.2, ss.229-230, 2020 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Kısa Makale
  • Cilt numarası: 52 Sayı: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5152/eurasianjmed.2020.18448
  • Dergi Adı: EURASIAN JOURNAL OF MEDICINE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.229-230
  • Anahtar Kelimeler: Children with special needs, developmental delay, microdeletion syndromes, CRITICAL REGION, 8Q22.1
  • Karadeniz Teknik Üniversitesi Adresli: Hayır

Özet

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.