布劳综合征：一个新的家族病例。
Blau syndrome: a new kindred.
作者信息
Alonso Delilah, Elgart George W, Schachner Lawrence A
机构信息
Department of Dermatology and Cutaneous Surgery University of Miami School of Medicine, Miami, FL 33136, USA.
出版信息
J Am Acad Dermatol. 2003 Aug;49(2):299-302. doi: 10.1067/s0190-9622(02)61772-4.
Abstract
Blau syndrome is a rare condition typically defined by granulomatous arthritis, skin eruption, and uveitis occurring in the absence of lung or other visceral involvement. Other characteristic physical findings include synovial cysts and camptodactyly. We describe a new kindred demonstrating autosomal dominant inheritance and anticipation.
摘要
布劳综合征是一种罕见疾病，通常定义为在无肺部或其他内脏受累的情况下出现肉芽肿性关节炎、皮疹和葡萄膜炎。其他特征性体格检查发现包括滑膜囊肿和屈曲指。我们描述了一个显示常染色体显性遗传和遗传早现的新家族。
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