Varghese P, Collins N, Warner G, Leitch J, Ho E, Crock P
Cardiovascular Unit, Division of Medicine, John Hunter Hospital, New Lambton, NSW, Australia.
Am J Med Genet A. 2014 May;164A(5):1213-7. doi: 10.1002/ajmg.a.35741. Epub 2014 Mar 7.
Yunis-Varon syndrome is a rare autosomal recessive condition initially characterized by specific skeletal and ectodermal abnormalities, and a poor prognosis, due to neurological and cardiovascular involvement. We describe the cardiovascular and endocrine complications in a 26-year-old man who had been reported previously, adding dilated cardiomyopathy to the clinical features consistent with Yunis-Varon syndrome. Short stature, successfully treated with growth hormone, and hypertension secondary to bilateral renal artery stenosis expand the phenotype.
尤尼斯-瓦伦综合征是一种罕见的常染色体隐性疾病，最初表现为特定的骨骼和外胚层异常，且由于神经和心血管受累，预后较差。我们描述了一名先前已报道过的26岁男性患者的心血管和内分泌并发症，在与尤尼斯-瓦伦综合征相符的临床特征中增加了扩张型心肌病。身材矮小经生长激素成功治疗，以及双侧肾动脉狭窄继发的高血压扩展了该综合征的表型。
