WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- tall iced drink of liquor (usually gin) with fruit juice (同)Tom_Collins
- English writer noted for early detective novels (1824-1889) (同)Wilkie Collins, William Wilkie Collins
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
- コリンズ(カクテルの一種;ウイスキー・ラム酒などにレモン水・砂糖などを加えたもの)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/11/13 16:51:13」(JST)
wiki en
| Treacher Collins syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | Q75.4 |
| ICD-9 | 756.0 |
| OMIM | 154500 |
| DiseasesDB | 13267 |
| MedlinePlus | 001659 |
| eMedicine | plastic/183 |
| MeSH | D008342 |
Treacher Collins syndrome (TCS), also known as Treacher Collins–Franceschetti syndrome,[1] or mandibulofacial dysostosis[2] is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones.[3]:577 Treacher Collins syndrome is found in about 1 in 50,000[4] births. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.
Contents
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Eponym
It is named after Edward Treacher Collins (1862–1932), the English surgeon and ophthalmologist who described its essential traits in 1900.[5] In 1949 Franceschetti and Klein described the same condition on their own observations as mandibulofacial dysostosis. The term mandibulofacial dysostosis is used to describe the clinical features.[6]
Cause
The cause of Treacher Collins Syndrome is a genetic mutation.
Kind of mutation
TCOF1 is the only gene currently known to be associated with TCS, a mutation in this gene being found in 90-95% of the individuals with TCS.[7][8] However in some individuals with typical symptoms of TCS, mutations in TCOF1 have not been found.[9] Investigation of the DNA has resulted in the identification of the kind of mutations found in TCOF1. The majority of mutations are small deletions or insertions, though splice site and missense mutations also been identified.[7][10][11][12] Mutation analysis has unveiled more than 100 disease-causing mutations in TCOF1, which are mostly family specific mutations. Only one recurrent mutation accounts for approximately 17% of the cases.[13]
Treacher Collins syndrome is inherited in an autosomal-dominant pattern.
Function of the TCOF1 gene
TCOF1 codes for a relatively simple, nucleolar protein called Treacle.[8] Mutations in TCOF1 lead to haploinsufficiency of the Treacle protein.[14] Haploinsufficiency occurs when a diploid organism has only one functional copy of a gene, because the other copy is inactivated by a mutation. Thereby the other functional gene does not produce enough of a gene-product to have the expected function, resulting in an abnormal disease state. Haploinsufficiency of the Treacle protein leads to a depletion of the neural crest cell precursor, which leads to a reduced number of crest cells migrating to the first and second pharyngeal arches. These crest cells play an important role in the development of the craniofacial appearance.[15][16] So down regulation of Treacle expression results in craniofacial defects and growth retardation.
Genetic counselling
TCS is inherited in an autosomal dominant manner and the penetrance of the affected gene is almost complete.[17] On the other hand some recent investigations described some rare cases in which the penetrance in TCS was not complete. Causes may be a variable expressivity, an incomplete penetrance [18] or germline mosaicism.[19] Only 40% of the mutations are inherited. The remaining 60% is a result of a de novo mutation.[20] In the outcome of the disease there is a lot of inter- and intrafamilial variability. This suggests that when an affected child is born, it is important to investigate the parents if the affected gene is present. It could be possible that a parent has a mild and undiagnosed TCS. In this case the risk of having another affected child is 50%. If the parents do not have the affected gene, the recurrence risk appears to be low.[17] In following generations the severity of the clinical symptoms increases.[11]
Signs
The incidence of this syndrome is 1 in 50,000 live births. The presentation of symptoms in people with Treacher Collins Syndrome varies. Some individuals may be so mildly affected that they remain undiagnosed, others can have severe facial involvement and life-threatening airway compromise.[21] Most of the features of TCS are bilateral and are already recognisable at birth. The most life threatening problem of individuals with TCS is a constricted airway, since this can give problems with breathing.
Patients are mostly characterized by the following abnormalities:
- Hypoplasia of the facial bones. Most described is an underdeveloped mandibular and zygomatic bone. This leads to a small and malformed jaw. This mandible hypoplasia can result in a malocclusion.[7]
- Ear anomalies. The external ear anomalies consist of small, rotated or even absent ears. Also symmetric, bilateral stenosis or atresia of the external auditory canals is described.[22] In most cases, the ossicles and the middle ear cavity were dysmorphic. Inner ear malformations are rarely described. As a result of these abnormalities a majority of the individuals with TCS are dealing with conductive hearing loss.[23]
- Most patients experience eye problems, varying from colobomata of the lower eyelids and aplasia of lid lashes to short, downslanting palpebral fissures and missing eyelashes. Vision loss can occur and is associated with strabismus, refractive errors, and anisometropia.[22][24]
- Cleft palate [7]
- Airway problems, which are often a result of mandibular hypoplasia.[7]
The presence of an abnormally shaped skull is not distinctive for Treacher Collins Syndrome but brachycephaly with bitemporal narrowing is sometimes observed.[22]
Dental anomalies are seen in 60% of TCS patients. These anomalies consist in tooth agenesis (33%), enamel disformaties (20%) and malplacement of the maxillary first molars (13%). In some cases dental anomalies in combination with mandible hypoplasia result in a malocclusion, this can lead to problems with food intake and the ability to close the mouth.
Some features related to TCS are seen less frequently:[7]
- Nasal deformity
- High-arched palate
- Coloboma of the upper lid [25]
- Ocular hypertelorism [25]
- Choanal atresia
- Macrostomia
- Preauricular hair displacement
Facial deformity is nowadays still associated by the general public with developmental delay, and lesser intelligence, but intelligence of patients with TCS is usually normal. The psychological and social problems associated with facial deformity may affect quality of life in a number of patients.
Diagnosis
The diagnosis of Treacher Collins Syndrome relies upon clinical and radiographic findings.
Clinical findings
There is a set of typical symptoms within Treacher Collins Syndrome. Those symptoms can be detected by a critical clinical view. The wide spectrum of diseases which have similar characteristics make it sometimes difficult to diagnose TCS.[26] The OMENS classification was developed as a comprehensive and stage-based approach to differentiate the diseases. This acronym describes five distinct dysmorphic manifestations, namely O; orbital asymmetry, M; mandibular hypoplasia, E; auricular deformity, N; nerve development and S; soft-tissue disease. The table below shows the OMENS classification in more detail.[27]
Orbit
- O0: normal orbital size, position
- O1: abnormal orbital size
- O2: abnormal orbital position
- O3: abnormal orbital size and position
Mandible
- M0: normal mandible
- M1: small mandible and glenoid fossa with short ramus
- M2: ramus short and abnormally shaped
- 2A: glenoid fossa in anatomical acceptable position
- 2B: Temperomandibular joint inferiorly (TMJ), medially, anteriorly displaced, with severely hypoplastic condyle
- M3: Complete absence of ramus, glenoid fossa and TMJ
Ear
- E0: normal ear
- E1: Minor hypoplasia and cupping with all structures present
- E2: Absence of external auditory cannel with variable hypoplasia of the concha
- E3: Malposition of the lobule with absent auricle, lobular remnant usually inferior anteriorly displaced
Facial Nerve
- N0: No facial nerve involvement
- N1: Upper facial nerve involvement (temporal or zygomatic branches)
- N2: Lower facial nerve involvement (buccal, mandibular or cervical)
- N3: All branches affected
Soft tissue
- S0: No soft tissue or muscle deficiency
- S1: Minimal tissue or muscle deficiency
- S2: Moderate tissue or muscle deficiency
- S3: Severe tissue or muscle deficiency
Radiological findings
Radiologic manifestations can be used to confirm the diagnosis. Imaging evaluation consists of X-rays (radiographs), CT scans, MRI, and/or ultrasound.
Radiographs
There are a few techniques which are used to confirm the diagnosis in TCS. An OPG is a panoramic dental X-ray of the upper and lower jaw. It shows a two-dimensional image from ear to ear. Particularly OPG facilitate an accurate post-operative follow-up and monitoring of bone growth under a mono or double-distractor treatment. Thereby some TCS features could be seen on orthopantogram, but there are better techniques to include the whole spectrum of TCS abnormalities instead of showing only the jaw abnormalities.[26] Another method of radiographic evaluation is taking a X-ray image of the whole head. The lateral cephalometric radiograph in TCS shows hypoplasia of the facial bones, like the malar bone, mandible and the mastoid.[26] Finally the occipitomental radiographs are used to detect hypoplasia or discontinuity of the zygomatic arch.[28]
CT-scan
A temporal bone CT using thin slices makes it possible to diagnose the degree of stenosis and atresia of the external auditory channel, the status of the middle ear cavity, the absent or dysplastic and rudimentary ossicles or the inner ear abnormalities such as a deficient cochlea. Two dimensional and 3D CT reconstructions with VRT and bone and skin-surfacing are helpful for more accurate staging and the 3-D planning of mandibular and external ear reconstructive surgery.
Differential diagnosis
There are other diseases which have similar characteristics as Treacher Collins Syndrome. In the differential diagnosis one should consider the acrofacial dysostoses. The facial appearance resembles that of Treacher Collins Syndrome, but there are additional limb abnormalities in those patients. Examples of these diseases are the Nager Syndrome and the Miller Syndrome. The oculoauriculovertebral spectrum should also be considered in the differential diagnosis. An example is Hemifacial Microsomia which primarily affects development of the ear, mouth, and mandible. This anomaly may occur bilaterally. Another disease which belongs to this spectrum is the Goldenhar Syndrome, which includes vertebral abnormalities, epibulbar dermoids and facial deformities.[29]
Management
The treatment of TCS should be tailored to the specific symptoms and needs of each individual.
The treatment of individuals affected by TCS needs a multidisciplinary approach and may involve the intervention of different professionals. The primary concerns in individuals with TCS are breathing and feeding problems, which are a consequence of the hypoplasia of the mandibula and the obstruction of the hypopharynx by the tongue. Sometimes even a tracheostomy is necessary to maintain an adequate airway.[30] Also a gastrostomy could be necessary to assure an adequate caloric intake while protecting the airway. Surgery to restore a normal structure of the face is normally performed at defined ages, depending on the development state.[31]
An overview of the present guidelines:
- If there is a cleft palate, the repair normally takes place at the age of 9–12 months. Before surgery, it is necessary to perform a polysomnography with a palatal plate in place, this may predict the postoperative situation and gives insight on the chance of the presence of OSAS after the operation.[7][32][33]
- The hearing loss is treated by bone conduction amplification, speech therapy and educational intervention to avoid language/speech problems. The bone-anchored hearing aid (Baha) is an alternative for individuals with ear anomalies [34]
- The zygomatic and orbital reconstruction is performed when the cranio-orbitozygomatic bone is completely developed. Usually at the age of 5–7 years. In children an autologous bone graft is mostly used. In combination with this transplantation, lipofilling can be used in the periorbital area to get an optimal result of the reconstruction.
- The reconstruction of the lower eyelid Coloboma includes the use of a myocutaneous flap, which is elevated and in this manner closes the eyelid defect.[35]
- The external ear reconstruction is usually done when the individual is at least 8 years old. Sometimes also the external auditory canal or middle ear can be treated.
- The optimal age for the maxillomandibular reconstruction is still a major point of discussion, at present, this classification is generally used:[7]
- Type I (mild) and Type IIa (moderate) 13–16 years
- Type IIb (moderate to severe malformation) at skeletal maturity
- Type III (severe) 6–10 years
- When the teeth are cutting, the teeth should be under supervision of an orthodontist to make sure that there are no abnormalities. If abnormalities like dislocation or an overgrowth of teeth are seen, appropriate action can be undertaken as soon as possible.[10]
- Orthognatic treatments usually take place after the age of 16 years; at this point all teeth are cut and the jaw and dentures are mature. Whenever OSAS is detected, the level of obstruction is determined through endoscopy of the upper airways. Mandibular advancement can be an effective way to improve both breathing and æsthetics, while a chinplasty only restores the profile.[7]
- If a nose reconstruction is necessary it is usually performed after the orthognatic surgery and after the age of 18 years.[7]
- The contour of the facial soft tissues generally requires correction at a later age, because of the facial skeletal maturity. The use of microsurgical methods, like the free flap transfer, has improved the correction of facial soft tissue contours.[36] Another technique to improve the facial soft tissue contours is lipofilling. For instance, lipofilling is used to reconstruct the eyelids.[35]
Hearing loss
Hearing loss in Treacher Collins Syndrome is caused by deformed structures in the outer and middle ear. The hearing loss is generally bilateral with a conductive loss of about 50-70 dB. Even in cases with normal auricles and open external auditory canals, the ossicular chain is often malformed.[37]
Attempts to surgically reconstruct the external auditory canal and improve hearing in children with Treacher Collins Syndrome have not yielded positive results[38]. Auditory rehabilitation with BAHA or a conventional bone conduction aid has proven preferable to surgical reconstruction[39].
For patients with Treacher Collins Syndrome, Bone Anchored Hearing Aid(BAHA) provides several advantages:
- As early aiding is of the utmost importance for this patient group, the Baha Softband facilitates normal language development[40]
- Pure tone audiometry (PTA) threshold improvements in the speech spectrum of >40dB have been reported using the Baha Softband in pediatric users with craniofacial anomalies[41]
- Compared to a conventional bone conduction aid, Baha provides better outcomes both audiologically and esthetically[42]
- Compared to surgical reconstruction, Baha provides more reliable outcomes and superior audiological results[38]
- Spontaneous improvement in the quality, pitch and intensity of a patient’s own voice may be seen after Baha aiding[43]
BAHA is a solution that overcomes a conductive hearing loss resulting from the auricular malformations seen in Treacher Collins Syndrome. Great improvements in language development have been reported after Baha fittings. Also, the Baha Softband provides the possibility of early aiding that is so important in this particular patient group[40][41]
For Treacher Collins syndrome patients a proper management of symptoms and needs results in a life expectancy that approximates that of the general population.
Media portrayals
A July 1977 New York Times article[44] that was reprinted in numerous newspapers nationwide over the ensuing weeks, brought this malady to many people's attention for the first time.
Treacher Collins syndrome was featured in the 2005 Discovery Channel documentary, Unmasked: Treacher Collins Syndrome. As of 2008, it was still being shown on Discovery Health and the TLC channels.
The disorder was featured on the show Nip/Tuck, in the episode "Blu Mondae."[45]
TLC's Born Without a Face[46] features Juliana Wetmore, who was born with the worst case in medical history of this syndrome and is missing 30%–40% of the bones in her face.[46]
In 2010, BBC Three documentary Love Me, Love My Face[47] covered the case of a man, Jono Lancaster, with the condition. In 2011, BBC Three returned to Jono to cover his and his partner Laura's quest to start a family,[2] in So What If My Baby Is Born Like Me?,[48] which first aired as part of a BBC Three season of programmes on parenting.[49] The first film was replayed on BBC One shortly ahead of the second film's initial BBC Three broadcast. Lancaster's third BBC Three film, Finding My Family on Facebook,[50] which looked at adoption, aired in 2011.
A young man with TCS was one of a number of people with various face/body-altering medical conditions or injuries to take part in Katie Piper's 2011 Channel 4 television series Katie: My Beautiful Friends.
A boy with TCS was one of the subjects on National Geographic Channel series Taboo, in the episode, Ugly.
Released on February 14, 2012, the book Wonder (RJ Palacio book) is about a boy with the condition.
See also
- Franceschetti-Klein syndrome
- Hearing loss with craniofacial syndromes
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 894, 1686. ISBN 1-4160-2999-0.
- ^ a b "'I hated seeing my face in the mirror'". BBC Online. 18 November 2010. http://www.bbc.co.uk/news/health-11780938. Retrieved 18 November 2010.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Conte, Chiara; Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sanguiuolo, Giuseppe Novelli (27). "Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome". Medical Genetics 12. http://apps.webofknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=1&SID=3EHMa3o8L5Jgg84kh6G&page=1&doc=4. Retrieved 5 December 2011.
- ^ Treacher Collin E, Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones, 1900, Trans Ophthalmol Soc UK, 20, p. 190-192
- ^ Franceschetti A, Klein D, Mandibulo-facial dysostosis: new hereditary syndrome, 1949, Acta Ophtalmol, 27, p. 143-224
- ^ a b c d e f g h i j Katsanis SH, et al., Treacher Collins syndrome, 2004, GeneReviews
- ^ a b The Treacher Collins Syndrome Collaborative Group, Positional cloning of a gene involved in the pathogenesis of Treacher Collins Syndrome, 1996, Nature Genet 12 p. 130-136
- ^ Teber OA, et al., Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation, 2004, Eur J Hum Genet 12 p. 879-890
- ^ a b Dixon J, et al., Treacher Collins syndrome, 2007, Orthod Craniofacial Res, 10 p. 88-95
- ^ a b Masotti C, Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients, 2009, BMC Medical Genetics, 10,136
- ^ Sakai D, et al., Treacher Collins syndrome: Unmasking the role of TCOF1/treacle, 2008, The International Journal of Biochemistry & Cell Biology, 41, p. 1229-1232
- ^ Splendore A, et al., TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature, 2005, Hum Mutat, 25 p. 429-434
- ^ Isaac C, et al., Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome, 2000, Mol Biol Cell, 11, p. 3061-3071
- ^ Gorlin RJ, Syndromes of the Head and Neck, 2001, Oxford University Press, 4the edition
- ^ Dixon, J., Trainor, P. and Dixon, M. (2007), Treacher Collins syndrome. Orthodontics & Craniofacial Research, 10: 88–95. doi:10.1111/j.1601-6343.2007.00388.x
- ^ a b Dixon MJ, et al., Treacher Collins syndrome: correlation between clinical and genetic linkage studies, 1994, Clin Dysmorphol, 3, p. 96-103
- ^ Dixon J, et al., Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome, 2004, Am J Med Genet A, 3, p. 244-248
- ^ Shoo BA, et al., Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome, 2004, Am J Med Genet, 126A, p. 84-88
- ^ Splendore A, et al., Parental origin of mutations in sporadic cases of Treacher Collins syndrome, 2003, Eur J Hum Gen, 11, p. 718-722
- ^ Edwards SJ, et al., Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging, 1996, J Med Genet, 33, p. 603-606
- ^ a b c Posnick JC, et al., Treacher Collins Syndrome: perspectives in evaluation and treatment, 1997, J Oral Maxillofac Surg, 55, p. 1120-1133
- ^ Trainor PA, et al., Treacher Collins Syndrome: etiology, pathogenesis and prevention, 2009, Europ J of Hum Gen, 4, p. 275-283
- ^ Hertle RW, et al., Ophtalmic features and visual prognosis in the Treacher Collins syndrome, 1993, Br J Ophtalmol, 10, p. 642-645
- ^ a b Marszalek B, et al., Clinical features, treatment and genetic background of Treacher Collins syndrome, 2006, Ann Plas Surg, 56, p. 549-554
- ^ a b c Senggen E, et al., First and second branchial arch syndromes: multimodality approach, 2010, Pediatr Radiol
- ^ Vento AR, et al., The O.M.E.N.S classification of hemifacial microsomia, 1991, Cleft Palate Craniofac, J 28,p. 68-76
- ^ Posnick JC, et al., Treacher Collins syndrome: current evaluation, treatment, and future directions, 2000, Cleft Palate Craniofac J., 55, p. 1120-1133
- ^ MJ Dixon, Treacher Collins Syndrome, 1995, J Med Genet, 32, p. 806-808
- ^ Goel L, et al., Treacher Collins syndrome-a challenge for anaesthesiologists, 2009, Indian J Anaesth, 53, p. 642-645
- ^ Evans AK, et al., Robin sequence: a retrospective review of 115 patients,2006, Int J Pediatr Otorhinolaryngol, 70, p. 973-980
- ^ Rose E, et al., Sleep-related obstructive disordered breathing in clef palate patients after palatoplasty, 2002, Plast Reconstr Surg, 2, p. 392-396
- ^ Bannink N, et al., Use of ambulatory polysomnography in children with syndromic craniosynostosis, 2010, J Craniofac Surg, 21, p. 1365-1368
- ^ Marres HA, Hearing loss in the Treacher Collins syndrome, 2002, Adv Ororhinolaryngol, 61, p. 209-215
- ^ a b Zhang Z, et al., Staged reconstruction for adult complete Treacher Collins syndrome, 2009, J Craniofac Surg, 20, 1433-1438
- ^ Saadeh PB, et al., Microsurgical correction of facial contour deformities in patients with craniofacial malformations: a 15-years experience, 2008, Plas Recon Surg, 6, p. 368e-378e
- ^ Argenta LC, Iacobucci JJ. Treacher Collins syndrome: present concepts of the disorder and their surgical correction. World journal of surgery. 1989 Jul-Aug;13(4):401-9.
- ^ a b Marres HA, Cremers CW, Marres EH. The Treacher Collins syndrome. Management of major and minor ear anomailes. Revue de laryngologie otolologie rhinologie. 1995:116, 2;105-108
- ^ Marres HA. Hearing Loss in the Treacher Collins Syndrome. Adv otorhinolaryngol. 2002;61:209-15.
- ^ a b Verhagen CV, Hol MK, Coppens-Schellekens W, Snik AF, Cremers CW. The Baha Softband A new treatment for young children with bilateral congenital aural atresia. International Journal of Pediatric Otorhinolaryngology (2008) 72, 1455—1459.
- ^ a b Nicholson N, Christensen L, Dornhoffer J, Martin P Smith-Olinde L. Verification of speech spectrum audibility for pediatric Baha Softband users with craniofacial anomalies. Cleft palate craniofacial journal. 2011 Jan 48,1
- ^ Granström G, Tjellström A. The Bone Anchored hearing aid in children with auricular malformations. ENT.Ear Nose Throat journal. 1997.
- ^ 11 Thomas J. Speech and voice rehabilitation in selected patients fitted with a bone anchored hearing aid (Baha). The journal of laryngology and otology. Supplement. 1996;21:47-51.
- ^ "Surgical Teamwork Gives Disease Victims a New Life", Donald G. McNeil, Jr., July 26, 1977, page L31.
- ^ Nip/Tuck: Blu Mondae - TV.com
- ^ a b First Coast News: Local Family Has Daughter Born Without a Face
- ^ BBC programme page for Love Me, Love My Face
- ^ BBC programme page for So What If My Baby...
- ^ BBC Three Bringing Up Britain season
- ^ BBC Programmes: 'Finding My Family on Facebook'
External links
- a Personal View of Treacher Collins Syndrome
- a Map to help TCS People find each other
- GeneReview/NCBI/NIH/UW entry on Treacher Collins Syndrome
- http://www.friendlyfaces.org/ is a resource for, and network of, individuals with facial differences, parents, families, friends, and health care professionals
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UpToDate Contents
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- 1. 頭蓋顔面異常を伴う症候群 syndromes with craniofacial abnormalities
- 2. 小児における聴覚障害：病因 hearing impairment in children etiology
- 3. 口唇口蓋裂の病因、出生前診断、産科マネージメント、および再発 etiology prenatal diagnosis obstetrical management and recurrence of orofacial clefts
- 4. 小児の気道確保困難 the difficult pediatric airway
- 5. 顔面裂および全前脳胞症 facial clefts and holoprosencephaly
English Journal
- Anesthetic implications of infants with mandibular hypoplasia treated with mandibular distraction osteogenesis.
- Frawley G, Espenell A, Howe P, Shand J, Heggie A, Cote C.SourceDepartment of Paediatric Anaesthesia and Pain Management, Royal Children's Hospital, Melbourne, Vic., Australia; Anaesthesia Research Unit, Murdoch Children's Research Institute, Melbourne, Vic., Australia; Department of Paediatrics, Melbourne University, Melbourne, Vic., Australia.
- Paediatric anaesthesia.Paediatr Anaesth.2012 Oct 9. doi: 10.1111/pan.12049. [Epub ahead of print]
- OBJECTIVES: To document the incidence of difficult intubation following mandibular distraction osteogenesis (MDO) in children with severe mandibular hypoplasia.BACKGROUND: Syndromes associated with significant mandibular hypoplasia, especially Pierre Robin sequence, provide a challenge in airway man
- PMID 23043528
Japanese Journal
- 口唇裂・口蓋裂患者の臨床統計的検討:―合併した先天異常について―
- 吉田 優,土井 理恵子,西尾 幸与,Abir MAJBAUDDIN,川崎 誠,小谷 勇,領家 和男
- Journal of Japanese Cleft Palate Association 39(1), 28-33, 2014
- … 4．症候群として診断の得られたものは30例（4.5%）で，その中でもPierre Robin症候群は17例で最も多く，次いで第1第2鰓弓症候群，Treacher Collins症候群がともに2例であった。 …
- NAID 130004567686
- ラリンジアルマスクを通して気管支ファイバースコープ挿管を行った小児トリーチャ・コリンズ症候群の1症例
- 緒方 富紀子,斉藤 朋之,立川 真弓 [他]
- 麻酔 62(12), 1413-1415, 2013-12
- NAID 40019893963
- 耳小骨奇形に対して鼓室形成術を施行した Treacher Collins 症候群の家族内発生例
- 阿部 純子,長谷川 賢作,山崎 愛語,矢間 敬章,國本 泰臣,北野 博也
- Otology Japan 22(5), 827-832, 2012-12-25
- NAID 10031145236
Related Links
- トリーチャー・コリンズ症候群（トリーチャー・コリンズしょうこうぐん、Treacher-Collins syndrome:TCS）は頬骨の欠如等 :577の顎顔面形態の不調和が特徴的な症状として 見られる疾患で、常染色体優性先天性疾患の中でも稀有な例の一つである。別名トリー ...
- Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have ...
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★リンクテーブル★
| リンク元 | 「トリーチャー・コリンズ症候群」 |
| 関連記事 | 「syndrome」 |
「トリーチャー・コリンズ症候群」
- 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
トリーチャー・コリンズ症候群 : 約 123,000 件 トリーチャ・コリンズ症候群 : 63 件 下顎顔面形成不全症 : 7 件 mandibulofacial dysostosis : 約 292 件 フランセスケッティ・クライン症候群 : 7 件 Franceschetti-Klein syndrome : 13 件 トレチャー・コリンズ症候群 : 36 件 Treacher-Collins症候群 : 約 81,800 件 Treacher-Collins syndrome : 約 2,270 件 Treacher-Collins' syndrome : 約 2,270 件 フランスシェッティ・クライン症候群 : 3 件 Franceschetti‐Klein症候群 : 8 件 フランスシェッティ症候群 : 10 件 フランセスケッティ症候群 : 3 件 Franceschetti症候群 : 7 件 Franceschetti's syndrome : 10 件 下顎顔面形成異常 : 43 件 下顎顔面異形成 : 11 件 下顎顔面異骨症候群 : 3 件 下顎顔面異骨症症候群 : 9 件 下顎顔面骨形成不全 : 59 件 mandibulofacial dysostosis syndrome : 6 件 顎顔面形成異常 : 24 件 顎顔面異形成 : 25 件 顎顔面骨形成不全 : 8 件 顎顔面骨形成不全症 : 9 件
- 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。
「syndrome」
- n.