一名患有I型口面指综合征患者的多囊肾病。
Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.
作者信息
Harrod M J, Stokes J, Peede L F, Goldstein J L
出版信息
Clin Genet. 1976 Feb;9(2):183-6. doi: 10.1111/j.1399-0004.1976.tb01565.x.
Abstract
Bilateral polycystic kidneys and chronic renal failure were observed in a 48-year-old woman with the classic clinical features of the oral-facial-digital syndrome, Type I (OFD-I). Since this association has been previously reported in two other patients, these findings suggest that polycystic kidneys may be a hitherto unrecognized manifestation of the oral-facial-digital syndrome.
摘要
在一名患有典型I型口面指综合征（OFD-I）临床特征的48岁女性中观察到双侧多囊肾和慢性肾衰竭。由于此前在另外两名患者中也有过这种关联的报道，这些发现表明多囊肾可能是口面指综合征一种迄今未被认识到的表现形式。
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