下顎顔面骨形成不全症
WordNet
- of or relating to the lower jaw and face
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/07/13 13:30:11」(JST)
[Wiki en表示]
Franceschetti–Klein syndrome |
Classification and external resources |
ICD-9 |
756.0 |
OMIM |
154500 |
DiseasesDB |
13267 |
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.
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
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Appendicular
limb / dysmelia |
Upper
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clavicle / shoulder:
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Cleidocranial dysostosis · Sprengel's deformity · Wallis Zieff Goldblatt syndrome
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hand deformity:
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Madelung's deformity · Clinodactyly · Oligodactyly · Polydactyly
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Lower
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hip:
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Dislocation of hip / Hip dysplasia · Upington disease · Coxa valga · Coxa vara
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knee:
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Genu valgum · Genu varum · Genu recurvatum · Discoid meniscus · Congenital patellar dislocation · Congenital knee dislocation
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foot deformity:
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varus (Club foot / Pigeon toe) · valgus (Flat feet) · Pes cavus · Rocker bottom foot · Hammer toe
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Either / both
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dactyly / digit:
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Polydactyly / Syndactyly (webbed toes) · Arachnodactyly · Cenani Lenz syndactylism · Ectrodactyly · Brachydactyly (Clubbed thumb)
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reduction deficits / limb:
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Acheiropodia · ectromelia (Phocomelia · Amelia · Hemimelia)
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multiple joints:
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Arthrogryposis · Larsen syndrome · Rapadilino syndrome
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Axial |
Craniofacial
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Craniosynostosis:
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Scaphocephaly · Oxycephaly · Trigonocephaly
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Craniofacial dysostosis:
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Crouzon syndrome · Hypertelorism · Hallermann–Streiff syndrome · Treacher-Collins syndrome
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other:
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Macrocephaly · Platybasia · Craniodiaphyseal dysplasia · Dolichocephaly · Greig cephalopolysyndactyly syndrome · Plagiocephaly · Saddle nose
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Vertebral column
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spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta · Sacralization
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Thoracic skeleton
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ribs:
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Cervical · Bifid
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sternum:
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Pectus excavatum · Pectus carinatum
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noco(arth/defr/back/soft)/cong, sysi/epon, injr
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Nucleus diseases
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Telomere |
Revesz syndrome
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Nucleolus |
Treacher–Collins syndrome · Spinocerebellar ataxia 7
Cajal body: Survival motor neuron spinal muscular atrophy
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Centromere |
CENPJ (Seckel syndrome 4)
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Other |
AAAS (Triple-A syndrome) · Laminopathy · SMC1A/SMC3 (Cornelia de Lange Syndrome) · SETBP1 (Schinzel–Giedion syndrome)
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see also nucleus
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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UpToDate Contents
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English Journal
- Screening for obstructive sleep apnea in Treacher-Collins syndrome.
- Plomp RG, Joosten KF, Wolvius EB, Hoeve HL, Poublon RM, van Montfort KA, Bredero-Boelhouwer HH, Mathijssen IM.SourceDepartment of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. r.plomp@erasmusmc.nl
- The Laryngoscope.Laryngoscope.2012 Apr;122(4):930-4. doi: 10.1002/lary.23187. Epub 2012 Feb 28.
- OBJECTIVES/HYPOTHESIS: This study evaluated the accuracy of established obstructive sleep apnea syndrome (OSAS) questionnaires based on presenting symptoms and complaints as screening tools for OSAS in Treacher-Collins syndrome (TCS).STUDY DESIGN: Cross-sectional cohort study.METHODS: In 35 TCS pati
- PMID 22374652
- Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literature.
- Schlieve T, Almusa M, Miloro M, Kolokythas A.SourceDepartment of Oral and Maxillofacial Surgery, University of Illinois at Chicago, Chicago, IL 60612, USA.
- Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons.J Oral Maxillofac Surg.2012 Mar;70(3):616-25. Epub 2011 Jul 1.
- PMID 21723020
Japanese Journal
- Case report: An acrofacial dysostosis case of rodriguez type
- Zhou Zhibo,Noguchi Makoto,Inoue Sayaka [他]
- 富山大学医学会誌 21(1), 37-39, 2010
- NAID 40018767899
- Facial anatomy in patients with mandibulofacial dysostosis : comparison with respect to the severities of microtia and middle ear deformity
Related Links
- mandibulofacial dysostosis a hereditary disorder occurring in a complete form (Franceschetti syndrome) and a less severe form (Treacher Collins syndrome), with antimongoloid slant of the palpebral fissures, coloboma of the lower ...
- Mandibulofacial dysostosis, also known as Treacher Collins syndrome (TCS; entry 154500 in the Online Mendelian Inheritance in Man [OMIM] classification system), is an inherited developmental disorder with a prevalence estimated to range between 1 in 40,000 to 1 in 70,000 of live births. [1, 2, 3, 4] Growth of ...
Related Pictures
★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
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- 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。
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- mandibulofacial dysostosis
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- 下顎顔面異骨症
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- トリーチャー・コリンズ症候群、下顎顔面異骨症、下顎顔面形成異常
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- 英
- mandibulofacial dysostosis
- 関
- 下顎顔面骨形成不全症、下顎顔面異骨症
[★]
- 英
- mandibulofacial dysostosis
- 関
- トリーチャー・コリンズ症候群
[★]
- 英
- mandibulofacial dysostosis
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