フランセスケッティ・クライン症候群
WordNet
- United States fashion designer noted for understated fashions (born in 1942) (同)Calvin Klein, Calvin Richard Klein
- German mathematician who created the Klein bottle (1849-1925) (同)Felix Klein
- United States psychoanalyst (born in Austria) who was the first to specialize in the psychoanalysis of small children (1882-1960) (同)Melanie Klein
- 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）』「2016/01/16 05:53:11」(JST)
[Wiki en表示]
| Franceschetti–Klein syndrome |
| Classification and external resources |
| ICD-9-CM |
756.0 |
| OMIM |
154500 |
| DiseasesDB |
13267 |
|
[edit on Wikidata]
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Franceschetti–Klein syndrome (also known as "Mandibulofacial dysostosis")[1] is a syndrome that includes palpebral antimongoloid fissures, hypoplasia of the facial bones, macrostomia, vaulted palate, malformations of both the external and internal ear, buccal-auricular fistula, abnormal development of the neck with stretching of the cheeks, accessory facial fissures, and skeletal deformities.[2]:577
It is sometimes equated with Treacher Collins syndrome.[3]
See also
References
- ^ FRANCESCHETTI A, KLEIN D (1949). "The mandibulofacial dysostosis; a new hereditary syndrome". Acta Ophthalmol (Copenh) 27 (2): 143–224. PMID 18142195.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Teber OA, Gillessen-Kaesbach G, Fischer S; et al. (November 2004). "Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation". Eur. J. Hum. Genet. 12 (11): 879–90. doi:10.1038/sj.ejhg.5201260. PMID 15340364.
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Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
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Appendicular
limb / dysmelia |
| Arms |
| clavicle / shoulder: |
- Cleidocranial dysostosis
- Sprengel's deformity
- Wallis–Zieff–Goldblatt syndrome
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|
| hand deformity: |
- Madelung's deformity
- Clinodactyly
- Oligodactyly
- Polydactyly
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|
|
| Leg |
| hip: |
- Dislocation of hip / Hip dysplasia
- Upington disease
- Coxa valga
- Coxa vara
|
|
| knee: |
- Genu valgum
- Genu varum
- Genu recurvatum
- Discoid meniscus
- Congenital patellar dislocation
- Congenital knee dislocation
|
|
| foot deformity: |
- varus
- valgus
- Pes cavus
- Rocker bottom foot
- Hammer toe
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|
|
| Either / both |
| fingers and toes |
- Polydactyly / Syndactyly
- Arachnodactyly
- Cenani–Lenz syndactylism
- Ectrodactyly
- Brachydactyly
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|
| reduction deficits / limb: |
- Acheiropodia
- ectromelia
- Phocomelia
- Amelia
- Hemimelia
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|
| multiple joints: |
- Arthrogryposis
- Larsen syndrome
- Rapadilino syndrome
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|
|
| Axial |
| Skull and face |
| Craniosynostosis: |
- Scaphocephaly
- Oxycephaly
- Trigonocephaly
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|
| Craniofacial dysostosis: |
- Crouzon syndrome
- Hypertelorism
- Hallermann–Streiff syndrome
- Treacher Collins syndrome
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|
| other: |
- Macrocephaly
- Platybasia
- Craniodiaphyseal dysplasia
- Dolichocephaly
- Greig cephalopolysyndactyly syndrome
- Plagiocephaly
- Saddle nose
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|
|
| Vertebral column |
- spinal curvature
- Klippel–Feil syndrome
- Spondylolisthesis
- Spina bifida occulta
- Sacralization
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|
| Thoracic skeleton |
| ribs: |
|
|
| sternum: |
- Pectus excavatum
- Pectus carinatum
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|
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Index of joint
|
|
| Description |
- Anatomy
- head and neck
- cranial
- arms
- torso and pelvis
- legs
- bursae and sheathes
- Physiology
|
|
| Disease |
- Arthritis
- acquired
- back
- childhood
- soft tissue
- Congenital
- Injury
- Symptoms and signs
- Examination
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| Treatment |
- Procedures
- Drugs
- rheumatoid arthritis
- gout
- topical analgesics
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Nucleus diseases
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| Telomere |
|
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| Nucleolus |
- Treacher Collins syndrome
- Spinocerebellar ataxia 7
- Cajal body: Spinal muscular atrophy
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| Centromere |
|
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| Other |
- AAAS
- Laminopathy
- SMC1A/SMC3
- Cornelia de Lange Syndrome
- SETBP1
- Schinzel–Giedion syndrome
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|
|
see also nucleus
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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UpToDate Contents
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English Journal
- Treacher collins syndrome.
- Chang CC1, Steinbacher DM.
- Seminars in plastic surgery.Semin Plast Surg.2012 May;26(2):83-90. doi: 10.1055/s-0032-1320066.
- Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenoty
- PMID 23633935
- Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
- Teber OA1, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D.
- European journal of human genetics : EJHG.Eur J Hum Genet.2004 Nov;12(11):879-90.
- To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosis of TCS and evaluated the clinical data, including a scoring system. A total of 27 coding exons of TC
- PMID 15340364
- [Clinico-radiological study of a case of typus amstelodamensis; pathogenetic correlation with Franceschetti-Klein syndrome].
- PARRINELLO G, BELLOMO G, BLANDINO G.
- Minerva pediatrica.Minerva Pediatr.1957 Jul 28;9(29-30):785-92.
- PMID 13483362
★リンクテーブル★
[★]
- 英
- Treacher Collins syndrome
- 同
- 下顎顔面形成不全症 mandibulofacial dysostosis、フランセスケッティ・クライン症候群 Franceschetti-Klein syndrome、トリーチャ・コリンズ症候群
- トレチャー・コリンズ症候群、Treacher-Collins症候群、Treacher-Collins syndrome、Treacher-Collins' syndrome、フランスシェッティ・クライン症候群、Franceschetti‐Klein症候群、フランスシェッティ症候群、フランセスケッティ症候群、Franceschetti症候群、Franceschetti's syndrome、下顎顔面形成異常、下顎顔面異形成、下顎顔面異骨症候群、下顎顔面異骨症症候群、下顎顔面骨形成不全、mandibulofacial dysostosis syndrome、顎顔面形成異常、顎顔面異形成、顎顔面骨形成不全、顎顔面骨形成不全症
[show details]
- 小額症、耳介低形成、外耳道閉鎖などの合併奇形を来す。
- 孤発性と遺伝性のものがあり、半数以上が突然変異(孤発性)のものである。遺伝性の場合は常染色体優性遺伝の形式を取る。
[★]
- 英
- Franceschetti-Klein syndrome
- 関
- トリーチャー・コリンズ症候群
[★]
クライネ、クライン
[★]