軟骨形成異常-皮膚色素異常症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- relating to or existing on or affecting the skin; "cutaneous nerves"; "a cutaneous infection" (同)cutaneal, dermal
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
- 皮膚の,皮膚を冒す
UpToDate Contents
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English Journal
- Gastrointestinal polyps in McCune Albright syndrome.
- Zacharin M1, Bajpai A, Chow CW, Catto-Smith A, Stratakis C, Wong MW, Scott R.
- Journal of medical genetics.J Med Genet.2011 Jul;48(7):458-61. doi: 10.1136/jmg.2010.086330. Epub 2011 Feb 28.
- BACKGROUND: McCune Albright syndrome (MAS), a disorder caused by somatic activating mutations in the GNAS gene, usually presents with cutaneous, skeletal, and endocrine manifestations. While focal lesions involving multiple tissues have been identified in MAS, almost nothing is known about gastroint
- PMID 21357941
- McCune-Albright syndrome: a case report in a male.
- Patel KB.
- Indian journal of dermatology, venereology and leprology.Indian J Dermatol Venereol Leprol.2010 Nov-Dec;76(6):723. doi: 10.4103/0378-6323.72473.
- McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a male patient with MAS having multiple café-au-lait macul
- PMID 21079331
- Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.
- Lionetti E1, Pavone P, Kennerknecht I, Failla G, Schepis C, De Pasquale R, Pavone L, Ruggieri M.
- Neuropediatrics.Neuropediatrics.2010 Aug;41(2):60-5. doi: 10.1055/s-0030-1261919. Epub 2010 Aug 26.
- BACKGROUND: The term cutis tricolor describes the combination of congenital hyper- and hypo-pigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported so far: (i) as pure cutaneous trait, (ii) as a part of a complex malformation sy
- PMID 20799151
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★リンクテーブル★
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- 英
- cutaneous dyschondroplasia-dyschromia syndrome
- 関
- マフッチ症候群
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- 関
- cutaneously、cutis、dermal、skin
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