Open AccessNablus Mask-Like Facial Syndrome with Moderate Developmental Delay
Author(s) -
Bahadır Turan,
Mehmet Akif Akıncı,
İbrahim Selçuk Esın,
Onur Burak Dursun
Publication year - 2020
Publication title -
the eurasian journal of medicine
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.337
H-Index - 13
eISSN - 1308-8742
pISSN - 1308-8734
DOI - 10.5152/eurasianjmed.2020.18448
Subject(s) - medicine , blepharophimosis , philtrum , craniofacial , craniofacial abnormality , nose , facial dysmorphism , audiology , dermatology , anatomy , ptosis , surgery , psychiatry , upper lip , biochemistry , chemistry , gene , phenotype
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.