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瓦登伯格综合征:三例报告。

Waardenburg syndrome: a report of three cases.

机构信息

Department of Dermatology, Venereology, & Leprosy, R. G. Kar Medical College, Khudiram Bose Sarani, Kolkata, India.

出版信息

Indian J Dermatol Venereol Leprol. 2010 Sep-Oct;76(5):550-2. doi: 10.4103/0378-6323.69089.

Abstract

Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.

摘要

瓦登伯格综合征(WS)是一种罕见的常染色体遗传性和遗传异质性神经嵴细胞发育障碍,具有明显的皮肤表现。根据临床表现,该疾病可分为四个亚型。需要仔细的临床评估来区分 WS 及其他相关的听觉色素综合征的各种类型。我们描述了一系列 WS 病例,以强调该综合征的广泛表现,包括一种罕见的关联。

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