| Literature DB >> 32612438 |
Bahadir Turan1, Mehmet Akif Akinci2, Ibrahim Selcuk Esin2, Onur Burak Dursun3.
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. ©Copyright 2020 by the Atatürk University School of Medicine - Available online at www.eurasianjmed.com.Entities:
Keywords: Children with special needs; developmental delay; microdeletion syndromes
Year: 2020 PMID: 32612438 PMCID: PMC7311142 DOI: 10.5152/eurasianjmed.2020.18448
Source DB: PubMed Journal: Eurasian J Med ISSN: 1308-8734