Literature DB >> 32612438

Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.

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


  6 in total

1.  Nablus mask-like facial syndrome.

Authors:  A S Teebi
Journal:  Am J Med Genet       Date:  2000-12-11

2.  Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

Authors:  Justin Overhoff; Marina M Rabideau; Lynne M Bird; Daniela N Schweitzer; Karla Haynes; Roger A Schultz; Lisa G Shaffer; Jill A Rosenfeld; Jay W Ellison
Journal:  Am J Med Genet A       Date:  2013-11-20       Impact factor: 2.802

3.  Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.

Authors:  Saumya S Jamuar; Hatice Duzkale; Neslihan Duzkale; Chengsheng Zhang; Frances A High; Leonard Kaban; Soma Bhattacharya; Barbara Crandall; Sibel Kantarci; Joan M Stoler; Angela E Lin
Journal:  Am J Med Genet A       Date:  2015-04-02       Impact factor: 2.802

4.  A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.

Authors:  Anne Debost-Legrand; Eleonore Eymard-Pierre; Céline Pebrel-Richard; Laetitia Gouas; Carole Goumy; Michel Giollant; Wiem Ayed; Andreï Tchirkov; Christine Francannet; Philippe Vago
Journal:  Am J Med Genet A       Date:  2012-12-13       Impact factor: 2.802

5.  A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.

Authors:  Shailly Jain; Ping Yang; S A Farrell
Journal:  Eur J Med Genet       Date:  2010-01-14       Impact factor: 2.708

Review 6.  The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Authors:  Annick Raas-Rothschild; Trijnie Dijkhuizen; Birgit Sikkema-Raddatz; Marion Werner; Judith Dagan; Devorah Abeliovich; Israela Lerer
Journal:  Eur J Med Genet       Date:  2009-03-26       Impact factor: 2.708

  6 in total

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