CONGENITAL LIPODYSTROPHIC DIABETES WITH ACANTHOSIS NIGRICANS: THE SEIP-LAWRENCE SYNDROME.
CONGENITAL LIPODYSTROPHIC DIABETES WITH ACANTHOSIS NIGRICANS: THE SEIP-LAWRENCE SYNDROME.
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先天性脂肪营养不良型糖尿病伴黑棘皮病：SEIP-劳伦斯综合征。
DOI：
10.1001/archderm.1965.01600100042012
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发表时间：
1965
影响因子：
--
通讯作者：
C. Fish
中科院分区：
文献类型：
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作者：
W. Reed;R. Dexter;C. Corley;C. Fish
我们讨论了三名活着的先天性脂肪营养不良型糖尿病患者和一名尸体解剖的妖精婴儿。黑棘皮病、多毛症和全身脂肪营养不良是这种多系统疾病的皮肤病学特征。其他特征包括青春期前生长加快、生殖器增大、无严重酮症的糖尿病、肝肿大和偶尔的脾肿大、脑室增大、有时智力缺陷、手脚大，偶尔还有心脏、骨骼和肾脏的先天性异常。这种情况可能是作为常染色体隐性遗传特征传播的。
Three living patients with congenital lipodystrophic diabetes and an autopsied infant with leprechaunism have been discussed. Acanthosis nigricans, hirsutism, and generalized lipodystrophy are dermatological features of this multisystem disorder. Other features include increased growth before puberty, enlarged genitalia, diabetes without severe ketosis, hepatomegaly and occasional splenomegaly, enlarged ventricles of the brain, sometimes mental deficiency, large hands and feet, and occasionally congenital anomalies of the heart, bones, and kidneys. The condition is probably transmitted as an autosomal recessive trait.