ラッド症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- the 18th letter of the Roman alphabet (同)r
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
- resistance / 17歳以下父兄同伴映画の表示 / rook
- rutheniumの化学記号
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2017/02/14 12:05:27」(JST)
[Wiki en表示]
Rud syndrome |
Classification and external resources |
OMIM |
308200 |
DiseasesDB |
29322 |
[edit on Wikidata]
|
Rud syndrome (also known as "Rud's syndrome") is a poorly characterized disorder, probably of recessive inheritance, that includes epilepsy, mental retardation, infantilism, congenital ichthyosis, and retinitis pigmentosa.[1]:502[2]:564
References
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
External links
- synd/1679 at Who Named It?
UpToDate Contents
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English Journal
- Rud syndrome does not exist.
- Happle R.
- European journal of dermatology : EJD.Eur J Dermatol.2012 Jan-Feb;22(1):7. doi: 10.1684/ejd.2011.1601.
- PMID 22067942
- Einar Rud and the syndrome that bears his name.
- Al Aboud K, Al Aboud D.
- European journal of dermatology : EJD.Eur J Dermatol.2011 Nov-Dec;21(6):1025-6. doi: 10.1684/ejd.2011.1547.
- PMID 21951511
- Rud syndrome with focal cortical dysplasia: a case report.
- Marconi S1, Cantalupo G, Marliani F, Toni F, Capovilla G, Lorenzetti E, Romeo A, Michelucci R, Rubboli G.
- Brain & development.Brain Dev.2011 Sep;33(8):683-6. doi: 10.1016/j.braindev.2010.10.011. Epub 2010 Nov 12.
- We report a female patient with ichthyosis, epilepsy, mental retardation, hypergonadotrophic hypogonadism, polyneuropathy, and cranial dysmorphisms. This clinical picture may satisfy the main diagnostic criteria that characterize Rud syndrome (RS), a rare neurocutaneous disease. The patient underwen
- PMID 21074957
Japanese Journal
- Rud syndrome with focal cortical dysplasia : A case report
- MARCONI Sara,CANTALUPO Gaetano,MARLIANI Federica,TONI Francesco,CAPOVILLA Giuseppe,LORENZETTI Elena,ROMEO Antonino,MICHELUCCI Roberto,RUBBOLI Guido
- Brain & development 33(8), 683-686, 2011-09-01
- NAID 10031121974
- 坪内 由里,梅林 芳弘,大塚 藤男,大久保 千眞季,村木 良一
- 西日本皮膚科 56(3), 458-466, 1994
- … 11歳の男児と6歳の女児のRud症候群の2例を報告した。 …
- NAID 130004473999
- 谷崎 泰象,中山 樹一郎,堀 嘉昭,松本 忠彦
- 西日本皮膚科 54(2), 247-250, 1992
- … 8歳男子のRud症候群の1例を経験した。 …
- NAID 130004473778
Related Links
- Rud syn·drome (rūd), ichthyosiform erythroderma associated with acanthosis nigricans, dwarfism, hypogonadism, and epilepsy; mostly sporadic, but may be an X-linked recessive trait. Rud syn·drome (rūd sin'drōm) Ichthyosiform ...
- ラッド症候群(Rud's syndrome)は、1927年にRudがはじめて報告した。ラッド症候群は、てんかん、精神遅滞、幼稚症、先天的な魚鱗癬(ぎょりんせん)、および網膜色素変性症によって特徴付けられている神経皮膚性の疾患である。
★リンクテーブル★
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- 英
- Rud syndrome, Rud's syndrome
- 関
- 黒色表皮腫
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ルテニウム ruthenium
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