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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.

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。

相似文献

1
Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.伴有中度发育迟缓的纳布卢斯面具样面部综合征
Eurasian J Med. 2020 Jun;52(2):229-230. doi: 10.5152/eurasianjmed.2020.18448. Epub 2020 Jun 2.
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Nablus syndrome: Easy to diagnose yet difficult to solve.纳布卢斯综合征:易于诊断,却难以解决。
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):447-457. doi: 10.1002/ajmg.c.31660.

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