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2
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本文引用的文献

1
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.8q22.1染色体缺失是纳布卢斯面具样面部综合征的关键区域：另外4例病例支持遗传修饰因子在该表型表现中的作用。
Am J Med Genet A. 2015 Jun;167(6):1400-5. doi: 10.1002/ajmg.a.36848. Epub 2015 Apr 2.
2
Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.与纳布卢斯面具样面部综合征相关的8q22.1微缺失关键区域的细化。
Am J Med Genet A. 2014 Jan;164A(1):259-63. doi: 10.1002/ajmg.a.36163. Epub 2013 Nov 20.
3
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.一个新的 8q22.1 微缺失病例限制了纳布卢斯面具样面综合征的关键区域。
Am J Med Genet A. 2013 Jan;161A(1):162-5. doi: 10.1002/ajmg.a.35614. Epub 2012 Dec 13.
4
A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.一例无纳布卢斯面具样面部综合征表型的8q22.1微缺失病例。
Eur J Med Genet. 2010 Mar-Apr;53(2):108-10. doi: 10.1016/j.ejmg.2009.12.006. Epub 2010 Jan 14.
5
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.8q22.1微缺失综合征或纳布卢斯面具样面部综合征：两例患者报告及文献复习
Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26.
6
Nablus mask-like facial syndrome.纳布卢斯面具样面部综合征
Am J Med Genet. 2000 Dec 11;95(4):407-8.

伴有中度发育迟缓的纳布卢斯面具样面部综合征

Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.

作者信息

Turan Bahadir, Akinci Mehmet Akif, Esin Ibrahim Selcuk, Dursun Onur Burak

机构信息

Department of Child and Adolescent Psychiatry, Agri State Hospital, Agri, Turkey.

Department of Child and Adolescent Psychiatry, Ataturk University School of Medicine, Erzurum, Turkey.

出版信息

Eurasian J Med. 2020 Jun;52(2):229-230. doi: 10.5152/eurasianjmed.2020.18448. Epub 2020 Jun 2.

DOI:10.5152/eurasianjmed.2020.18448
PMID:32612438
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7311142/
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.

摘要

纳布卢斯面具样面部综合征（NMLFS）的定义是具有独特的颅面外观，包括面部皮肤紧绷有光泽、睑裂狭小、内眦距增宽、严重的弓形眉、扁平宽阔的鼻子、长人中、独特的耳朵、异常的毛发分布、轻度发育迟缓以及“愉悦”的性情。我们旨在报告一名被诊断为NMLFS且有中度发育迟缓的7岁男孩。文献强调智力障碍在该综合征中很常见，尽管全球仅诊断出少数病例。