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phakomatoses：图文综述。

Phakomatoses: A pictorial review.

作者信息

Swarup M Sarthak, Gupta Swati, Singh Sapna, Prakash Anjali, Mehndiratta Anurag, Garg Anju

机构信息

Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.

出版信息

Indian J Radiol Imaging. 2020 Apr-Jun;30(2):195-205. doi: 10.4103/ijri.IJRI_497_19. Epub 2020 Jul 13.

DOI:10.4103/ijri.IJRI_497_19
PMID:33100689
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7546286/
Abstract

Phakomatoses or Neurocutaneous syndromes are a heterogeneous group of disorders and have variable inheritance pattern. Currently, more than 30 entities are included in this group. These disorders primarily affect the central nervous system; however, skin, viscera, and other connective tissues can also be involved with variable clinical presentation. We will describe and illustrate the various radiological findings of the common entities through the iconography of the cases presented to our department.

摘要

phakomatoses或神经皮肤综合征是一组异质性疾病，具有可变的遗传模式。目前，该组包括30多种疾病。这些疾病主要影响中枢神经系统；然而，皮肤、内脏和其他结缔组织也可能受累，临床表现各异。我们将通过提交至我科病例的影像学表现来描述和说明常见疾病的各种放射学表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4eb2/7546286/1a534e1069fc/IJRI-30-195-g026.jpg
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