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.
Highlights
Nablus mask-like facial syndrome (NMLFS) is characterized by a distinctive craniofacial appearance featuring tight-appearing glistening facial skin, blepharophimosis, telecanthus, severe arched eyebrows, flat and broad nose, long philtrum, distinctive ears, unusual hair patterns on the scalp, mild developmental delay, and “happy” disposition [1]
NMLFS is a rare microdeletion syndrome, in which deletion of chromosome 8q22.1 is significant, but not sufficient, for development, and this contributes to additional clarification of the critical region [1,2,3]
Based on the results of the clinical examination and IQ test Wechsler Intelligence Scale for Children-Revised (WISC-R) conducted for the patient, he was diagnosed with moderate intellectual disability
Summary
Nablus mask-like facial syndrome (NMLFS) is characterized by a distinctive craniofacial appearance featuring tight-appearing glistening facial skin, blepharophimosis, telecanthus, severe arched eyebrows, flat and broad nose, long philtrum, distinctive ears, unusual hair patterns on the scalp, mild developmental delay, and “happy” disposition [1]. The initial clinical report of a case revealed by Teebi in 2000 caused the recognition of a new syndrome [1] It is very rare, and there are currently approximately 12 cases of NMLFS published in the literature [2,3,4]. NMLFS is a rare microdeletion syndrome, in which deletion of chromosome 8q22.1 is significant, but not sufficient, for development, and this contributes to additional clarification of the critical region [1,2,3]
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