因11-β-羟化酶缺乏所致的肾上腺生殖器综合征，伴有骨骼异常和肺动脉狭窄。
Adrenogenital syndrome due to 11-beta-hydroxylase deficiency with skeletal abnormalities and pulmonary stenosis.
作者信息
Ajlouni K, El-Zaheri M, Habbab M, Qoussous Y, El-Khateeb M
出版信息
J Endocrinol Invest. 1984 Apr;7(2):129-31. doi: 10.1007/BF03348402.
PMID:6609951
Abstract
This report describes a 13-year-old female patient with 11-beta-hydroxylase deficiency who was found to have short fourth metatarsals and pulmonary stenosis. The unusual association between these abnormalities and this rare form of congenital adrenal hyperplasia is presented.
摘要
本报告描述了一名患有11-β-羟化酶缺乏症的13岁女性患者，该患者被发现第四跖骨短小并伴有肺动脉狭窄。本文介绍了这些异常情况与这种罕见的先天性肾上腺皮质增生症之间的不寻常关联。
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