クラリーノ症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
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
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/09/18 17:50:48」(JST)
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Currarino syndrome |
An X-ray showing Imperforate anus
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Classification and external resources |
OMIM |
176450 |
DiseasesDB |
33509 |
The Currarino syndrome (also Currarino triad) is an inherited congenital disorder where (1) the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, (2) there is a mass in the presacral space in front of the sacrum, and (3) there are malformations of the anus or rectum. It can also cause an anterior meningocele or a presacral teratoma.
Presacral teratoma usually is considered to be a variant of sacrococcygeal teratoma. However, the presacral teratoma that is characteristic of the Currarino syndrome may be a distinct kind.[1]
Genetics
The disorder is an autosomal dominant genetic trait[2] caused by a mutation in the HLXB9 homeobox gene. In 2000 the first large series of Currarino cases was genetically screened for HLXB9 mutations, and it was shown that the gene is specifically causative for the syndrome, but not for other forms of sacral agenesis. The study was published on the American Journal of Human Genetics.[3]
Currarino syndrome has an autosomal dominant pattern of inheritance
See also
References
- ^ Gopal M, Turnpenny PD, Spicer R (June 2007). "Hereditary sacrococcygeal teratoma--not the same as its sporadic counterpart!". Eur J Pediatr Surg 17 (3): 214–6. doi:10.1055/s-2007-965121. PMID 17638164.
- ^ Ashcraft KW, Holder TM (October 1974). "Hereditary presacral teratoma". J. Pediatr. Surg. 9 (5): 691–7. doi:10.1016/0022-3468(74)90107-9. PMID 4418917.
- ^ Belloni, E; Martucciello, G; Verderio, D; Ponti, E; Seri, M; Jasonni, V; Torre, M; Ferrari, M; Tsui, LC; Scherer, SW (January 2000). "Involvement of the HLXB9 homeobox gene in Currarino syndrome.". American Journal of Human Genetics 66 (1): 312–9. doi:10.1086/302723. PMC 1288336. PMID 10631160.
Congenital malformations and deformations of nervous system (Q00–Q07, 740–742)
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Brain |
Neural tube defect |
- Anencephaly
- Acephaly
- Acrania
- Acalvaria
- Iniencephaly
- Encephalocele
- Arnold–Chiari malformation
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Other |
- Microcephaly
- Congenital hydrocephalus
- other reduction deformities
- Holoprosencephaly
- Lissencephaly
- Pachygyria
- Hydranencephaly
- Septo-optic dysplasia
- Megalencephaly
- CNS cyst
- Porencephaly
- Schizencephaly
- Polymicrogyria
- Bilateral frontoparietal polymicrogyria
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Spinal cord |
Neural tube defect |
- Spina bifida
- Rachischisis
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Other |
- Currarino syndrome
- Diastomatomyelia
- Syringomyelia
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Index of the central nervous system
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Description |
- Anatomy
- meninges
- cortex
- association fibers
- commissural fibers
- lateral ventricles
- basal ganglia
- diencephalon
- mesencephalon
- pons
- cerebellum
- medulla
- spinal cord
- Physiology
- Development
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Disease |
- Cerebral palsy
- Meningitis
- Demyelinating diseases
- Seizures and epilepsy
- Headache
- Stroke
- Sleep
- Congenital
- Injury
- Neoplasms and cancer
- Other
- Symptoms and signs
- head and neck
- eponymous
- lesions
- Tests
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Treatment |
- Procedures
- Drugs
- general anesthetics
- analgesics
- addiction
- epilepsy
- cholinergics
- migraine
- Parkinson's
- vertigo
- other
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UpToDate Contents
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English Journal
- Radiological findings in Currarino syndrome.
- Pérez Vega-Leal C, Sainz Gómez C, Ubis Rodríguez E, Garrido-Domínguez E, Díez Fernández A, Rubio Viguera V.SourceServicio de Radiología, Hospital San Pedro, Logroño, España.
- Radiologia.Radiologia.2012 Jan 9. [Epub ahead of print]
- OBJECTIVE: To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum, presacral mass, and anal-rectal anomalies), and to familiarise the radiologist with this condition that, although uncommon, could be suspected by its charac
- PMID 22237391
- Presacral teratoma in a Curarrino syndrome woman with an unreported insertion in MNX1 gene.
- Lin YH, Huang RL, Lai HC.SourceDepartment of Obstetrics and Gynecology, National Defense Medical Center, Taipei, Taiwan.
- Taiwanese journal of obstetrics & gynecology.Taiwan J Obstet Gynecol.2011 Dec;50(4):512-4.
- OBJECTIVE: Currarino syndrome (CS) comprises a presacral mass, anorectal malformation, and a sacral bony defect. It is rarely reported in the gynecological field.CASE REPORT: We describe here the case of a 26-year-old married woman with Currarino syndrome who presented with a presacral teratoma and
- PMID 22212327
Japanese Journal
- Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome
- KIM In-Suk,OH Soo-young,CHOI Suk-Joo,KIM Jong-Hwa,PARK Kwan Hyun,PARK Hyun-Kyung,KIM Jong-Won,KI Chang-Seok
- Journal of human genetics 52(8), 698-701, 2007-08-01
- NAID 10019812977
- Anterior sacral meningocele を合併し, 細菌性髄膜炎を反復した Marfan 症候群の1例
- 波多野 明子,秋山 克徳,永山 正雄,高木 繁治
- 臨床神経学 : CLINICAL NEUROLOGY 46(9), 658-660, 2006-09-01
- NAID 10018450154
Related Links
- The Currarino syndrome (also Currarino triad) is an inherited congenital disorder where (1) the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, (2) there is a mass in the presacral space in front of the sacrum, ...
- 直腸肛門奇形,仙骨前腫瘤,仙骨奇形を三徴とするCurrarino症候群(以下本症と略す)は 非常に稀な疾患として知られている.今回我々は本症と考えられた4例を経験したので 文献的考察を加えて報告する.性別は男児1例,女児3例.直腸肛門奇形は直腸狭窄1例, ...
★リンクテーブル★
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- 英
- Currarino syndrome
- 奇形を合併する症候群:肛門直腸奇形、仙骨奇形、仙骨前奇形
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