Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.
The Eurasian journal of medicine, cilt.52, sa.2, ss.229-230, 2020 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 52 Sayı: 2
- Basım Tarihi: 2020
- Doi Numarası: 10.5152/eurasianjmed.2020.18448
- Dergi Adı: The 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
- Atatürk Üniversitesi Adresli: Evet
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.