Bahadir Turan, Mehmet Akif Akinci, Ibrahim Selcuk Esin, Onur Burak Dursun
{"title":"Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.","authors":"Bahadir Turan, Mehmet Akif Akinci, Ibrahim Selcuk Esin, Onur Burak Dursun","doi":"10.5152/eurasianjmed.2020.18448","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":517142,"journal":{"name":"The Eurasian Journal of Medicine","volume":"52 2","pages":"229-230"},"PeriodicalIF":0.0000,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311142/pdf/eajm-52-2-229.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Eurasian Journal of Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5152/eurasianjmed.2020.18448","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/6/2 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
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.