再探鲁德综合征：鱼鳞病、智力发育迟缓、癫痫和性腺功能减退。
Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism.
作者信息
Marxmiller J, Trenkle I, Ashwal S
出版信息
Dev Med Child Neurol. 1985 Jun;27(3):335-43. doi: 10.1111/j.1469-8749.1985.tb04545.x.
Abstract
Rud syndrome is a rare disorder of childhood characterized by ichthyosis, mental retardation, epilepsy and hypogonadism. The authors report a family with this autosomal recessive disorder, review the clinical and dermatopathological findings, and contrast Rud syndrome with the other major neuro-ichthyosiform dermatoses.
摘要
鲁德综合征是一种罕见的儿童疾病，其特征为鱼鳞病、智力迟钝、癫痫和性腺功能减退。作者报告了一个患有这种常染色体隐性疾病的家庭，回顾了临床和皮肤病理学发现，并将鲁德综合征与其他主要的神经鱼鳞病样皮肤病进行了对比。
相似文献
1
Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism.再探鲁德综合征：鱼鳞病、智力发育迟缓、癫痫和性腺功能减退。
Dev Med Child Neurol. 1985 Jun;27(3):335-43. doi: 10.1111/j.1469-8749.1985.tb04545.x.
2
Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.鱼鳞病、性腺功能减退、智力发育迟缓及癫痫综合征的遗传异质性。对两名Rud综合征患者的临床及生化研究并文献复习。
Eur J Pediatr. 1983 Oct;141(1):8-13. doi: 10.1007/BF00445661.
3
Einar Rud and the syndrome that bears his name.埃纳尔·鲁德与以他名字命名的综合征。
Eur J Dermatol. 2011 Nov-Dec;21(6):1025-6. doi: 10.1684/ejd.2011.1547.
4
[A case of Rud's syndrome].
Zh Nevrol Psikhiatr Im S S Korsakova. 1993;93(5):104-6.
5
Rud syndrome does not exist.鲁德综合征不存在。
Eur J Dermatol. 2012 Jan-Feb;22(1):7. doi: 10.1684/ejd.2011.1601.
6
7
A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram.
Ophthalmic Genet. 1998 Jun;19(2):69-79. doi: 10.1076/opge.19.2.69.2318.
8
[On the Rud syndrome].论鲁德综合征
Minerva Dermatol. 1967 Apr;42(4):142-5.
9
[Rud syndrome].[鲁德综合征]
Nihon Rinsho. 2006 Sep 28;Suppl 3:485-7.
10
Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy.鲁德综合征：先天性鱼鳞病、性腺功能减退、智力发育迟缓、色素性视网膜炎和肥厚性多发性神经病。
Neuropediatrics. 1982 May;13(2):95-8. doi: 10.1055/s-2008-1059605.
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