コーエン症候群。筋低緊張・肥満・脳・骨症候群
WordNet
- of or relating to the cerebrum or brain; "cerebral hemisphere"; "cerebral activity"
- involving intelligence rather than emotions or instinct; "a cerebral approach to the problem"; "cerebral drama" (同)intellectual
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- of or relating to or forming or attached to a skeleton; "the skeletal system"; "skeletal bones"; "skeletal muscles"
- (of muscular tissue) the state of being hypotonic (同)hypotonus, hypotonicity
PrepTutorEJDIC
- 大脳の,脳の / 頭脳的な,知的な
- (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
- 骨格に;がい骨の;がい骨のような
- 肥満
UpToDate Contents
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English Journal
- Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).
- Walters-Sen LC1, Windemuth K1, Angione K1, Nandhlal J1, Milunsky JM2.
- European journal of medical genetics.Eur J Med Genet.2015 May;58(5):305-9. doi: 10.1016/j.ejmg.2015.03.004. Epub 2015 Apr 6.
- Submicroscopic duplications of 5p13 have been recently reported in several cases, warranting the description of a new clinical entity (Chromosome 5p13 Duplication Syndrome; MIM 613174). These microduplications, while variable in size, all contain at least part of the NIPBL gene. Patients with duplic
- PMID 25858703
- Chromosome 15q24 microdeletion syndrome.
- Magoulas PL1, El-Hattab AW.
- Orphanet journal of rare diseases.Orphanet J Rare Dis.2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2.
- Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epica
- PMID 22216833
- Muscle histochemistry in the Prader-Willi syndrome.
- Sone S1.
- Brain & development.Brain Dev.1994 May-Jun;16(3):183-8.
- In a follow-up study of 259 floppy infants of undetermined cause in my laboratory, 11 patients were later diagnosed as having the Prader-Willi syndrome (PWS). To clarify the pathogenesis of muscle hypotonia in PWS, I examined muscle biopsies by histochemical and morphometric methods and the results
- PMID 7943601
Related Links
- Obesity-Cerebral-Ocular-Skeletal Anomalies Syndrome to Oxalosis - Obesity-Cerebral-Ocular-Skeletal Anomalies Syndrome Lecture 1 of 52 NEXT» General: Rare, autosomal recessive disease; similar to Prader-Willi and ...
- Journal of the neurological Sciences 49 Elsevier Publishing Company, Amsterdam - Printed in The Netherlands Pathology of Muscular Hypotonia in the Prader-Willi Syndrome Light and Electron ...
★リンクテーブル★
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- 英
- Cohen syndrome
- 同
- Cohen症候群、脳・肥満・眼・骨症候群 cerebral-obesity-ocular-skeletal syndrome、筋低緊張・肥満・脳・骨症候群 hypotonia-obesity-cerebral-skeletal syndrome
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- 関
- decreased muscle tone、hypobaric、low pressure、low-pressure、muscle hypotonia、muscular flaccidity、muscular hypotonia
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- 関
- brain、cerebri、cerebro、cerebrum、encephalic、encephalo、encephalon
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- 関
- scaffold, skeleton
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