mandibulofacial dysostosis

Summary

Summary: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)

Top Publications

  1. Jones N, Lynn M, Gaudenz K, Sakai D, Aoto K, Rey J, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med. 2008;14:125-33 pubmed publisher
  2. Guion Almeida M, Zechi Ceide R, Vendramini S, Tabith Junior A. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol. 2006;15:171-4 pubmed
    ..cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate...
  3. Thompson J, Anderson P, David D. Treacher Collins syndrome: protocol management from birth to maturity. J Craniofac Surg. 2009;20:2028-35 pubmed publisher
    ..This article reviews the experience at the Australian Craniofacial Unit and describes the protocol for management...
  4. Marszalek B, Wisniewski S, Wojcicki P, Kobus K, Trzeciak W. Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. Am J Med Genet A. 2003;123A:169-71 pubmed
    ..Real-time PCR analysis showed different melting temperatures of the amplified fragment containing normal allele and that harboring the 18 bp deletion, thus providing a rapid screening assay for this and other deletions of the TCOF1 gene...
  5. Ellis P, Dawson M, Dixon M. Mutation testing in Treacher Collins Syndrome. J Orthod. 2002;29:293-7; discussion 278 pubmed
    ..To report on a study where 97 subjects were screened for mutations in the Treacher Collins syndrome (TCS) gene TCOF1...
  6. Splendore A, Jabs E, Passos Bueno M. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet. 2002;39:493-5 pubmed
  7. Gonzales B, Yang H, Henning D, Valdez B. Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product. Gene. 2005;359:73-80 pubmed
    ..laevis oocytes resulted in inhibition of rDNA gene transcription. The results suggest evolutionary conservation of the function of treacle in ribosomal RNA biogenesis in higher eukaryotes...
  8. Lines M, Huang L, Schwartzentruber J, Douglas S, Lynch D, Beaulieu C, et al. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet. 2012;90:369-77 pubmed publisher
    b>Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance...
  9. Wieczorek D, Gener B, González M, Seland S, Fischer S, Hehr U, et al. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A. 2009;149A:837-43 pubmed publisher
    Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft ..

More Information

Publications75

  1. Dixon J, Brakebusch C, Fassler R, Dixon M. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum Mol Genet. 2000;9:1473-80 pubmed
    ..Our results demonstrate that TCS arises from haploinsufficiency of a protein that plays a crucial role in craniofacial development and indicate that correct dosage of treacle is essential for survival of cephalic neural crest cells...
  2. Winokur S, Shiang R. The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. Hum Mol Genet. 1998;7:1947-52 pubmed
    ..This study provides the first direct analysis of treacle and demonstrates that the protein involved in TCOF1 is a nucleolar protein...
  3. Splendore A, Jabs E, Felix T, Passos Bueno M. Parental origin of mutations in sporadic cases of Treacher Collins syndrome. Eur J Hum Genet. 2003;11:718-22 pubmed
    ..A discussion on the parental origin of mutations and paternal age effect in other diseases is included...
  4. Asten P, Skogedal N, Nordgarden H, Axelsson S, Akre H, Sjögreen L. Orofacial functions and oral health associated with Treacher Collins syndrome. Acta Odontol Scand. 2013;71:616-25 pubmed publisher
    ..The aim of this study was to describe orofacial features and functions and oral health associated with Treacher Collins syndrome (TCS) in relation to the variable phenotypic expression of the condition...
  5. Luquetti D, Hing A, Rieder M, Nickerson D, Turner E, Smith J, et al. "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. Am J Med Genet A. 2013;161A:108-13 pubmed publisher
    ..in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536)...
  6. Marsh K, Dixon J, Dixon M. Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. Hum Mol Genet. 1998;7:1795-800 pubmed
    ..TCS is, therefore, the first Mendelian disorder resulting from mutations which lead to aberrant expression of a nucleolar protein...
  7. Wise C, Chiang L, Paznekas W, Sharma M, Musy M, Ashley J, et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A. 1997;94:3110-5 pubmed
    Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families...
  8. So R, Gonzales B, Henning D, Dixon J, Dixon M, Valdez B. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene. 2004;328:49-57 pubmed
    ..The discovery of exons 6A and 16A is relevant to mutational analysis of the TCOF1 gene in TCS patients, and to functional analysis of its gene product...
  9. Dixon J, Ellis I, Bottani A, Temple K, Dixon M. Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. Am J Med Genet A. 2004;127A:244-8 pubmed
    ..In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families...
  10. Beaune L, Forrest C, Keith T. Adolescents' perspectives on living and growing up with Treacher Collins syndrome: a qualitative study. Cleft Palate Craniofac J. 2004;41:343-50 pubmed
    ..This study explored the experiences and essences of growing up and living with Treacher Collins syndrome (TCS) from an adolescent perspective...
  11. Teber O, Gillessen Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004;12:879-90 pubmed
    ..The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described...
  12. Stelnicki E, Lin W, Lee C, Grayson B, McCarthy J. Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathia. Plast Reconstr Surg. 2002;109:1819-25; discussion 1826-7 pubmed
  13. Maegawa G, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P, et al. Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?. Clin Dysmorphol. 2006;15:191-6 pubmed
    ..gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as ..
  14. Gonzales B, Henning D, So R, Dixon J, Dixon M, Valdez B. The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Genet. 2005;14:2035-43 pubmed
  15. Goverdhan S, Temple I, Self J, Lotery A, Dixon M, Evans A. Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration. Br J Ophthalmol. 2005;89:1063-4 pubmed
  16. Edwards S, Gladwin A, Dixon M. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet. 1997;60:515-24 pubmed
    ..This mutational spectrum supports the hypothesis that TCS results from haploinsufficiency...
  17. Fumagalli S, Thomas G. The role of p53 in ribosomopathies. Semin Hematol. 2011;48:97-105 pubmed publisher
  18. Wieczorek D. Human facial dysostoses. Clin Genet. 2013;83:499-510 pubmed publisher
    ..Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date...
  19. Posnick J, Ruiz R. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J. 2000;37:434 pubmed
    ..The craniofacial rehabilitation of a child with TCS is tailored to the extent of the deformities involved: the orbitozygomatic region, the maxillomandibular region, the nose, facial soft tissues, and external and middle ear structures...
  20. Hayano T, Yanagida M, Yamauchi Y, Shinkawa T, Isobe T, Takahashi N. Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. J Biol Chem. 2003;278:34309-19 pubmed
  21. Miller S, Glynn S, Kiely J, McNicholas W. The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia. Respirology. 2010;15:377-9 pubmed publisher
    ..There is a definite role for nCPAP therapy in patients with congenital micrognathia and OSAS. The use of nCPAP may obviate the need for more invasive corrective surgery for OSAS and is not necessarily a life-long requirement...
  22. Dauwerse J, Dixon J, Seland S, Ruivenkamp C, van Haeringen A, Hoefsloot L, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011;43:20-2 pubmed publisher
    ..These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy...
  23. Splendore A, Silva E, Alonso L, Richieri Costa A, Alonso N, Rosa A, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. 2000;16:315-22 pubmed
    ..Furthermore, our data confirm the absence of genotype-phenotype correlation and reinforce that the apparent anticipation often observed in TCS families is due to ascertainment bias...
  24. Sakai D, Trainor P. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol. 2009;41:1229-32 pubmed publisher
    ..Nat Med 2008;14:125-33]. These findings shed new light on potential therapeutic avenues for the prevention of not only TCS but also other congenital craniofacial disorders which share a similar etiology and pathogenesis...
  25. Bernier F, Caluseriu O, Ng S, Schwartzentruber J, Buckingham K, Innes A, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet. 2012;90:925-33 pubmed publisher
  26. Dixon J, Dixon M. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. Dev Dyn. 2004;229:907-14 pubmed
    ..The results of our studies indicate that factors in the different genetic backgrounds contribute extensively to the Tcof1 phenotype...
  27. Takegoshi H, Kaga K, Chihara Y. Facial canal anatomy in patients with mandibulofacial dysostosis: comparison with respect to the severities of microtia and middle ear deformity. Otol Neurotol. 2005;26:803-8 pubmed
    To study the difference in the facial canal anatomy in terms of the severity of microtia and deformity of the middle ear in patients with mandibulofacial dysostosis using high-resolution computed tomography.
  28. Vallino Napoli L. A profile of the features and speech in patients with mandibulofacial dysostosis. Cleft Palate Craniofac J. 2002;39:623-34 pubmed
    To present a profile of the features and speech in patients with mandibulofacial dysostosis (MFD). Data were collected on occlusion, palatal condition, hearing, resonance, voice, and articulation.
  29. Trainor P, Dixon J, Dixon M. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17:275-83 pubmed publisher
    ..Recent research using animal models has not only determined the cellular basis of TCS but also, more importantly, unveiled a successful avenue for therapeutic intervention and prevention of the craniofacial anomalies observed in TCS...
  30. Trainor P. Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet A. 2010;152A:2984-94 pubmed publisher
  31. Walker M, Trainor P. Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes. Clin Genet. 2006;69:471-9 pubmed
  32. Su P, Chen J, Chen S, Yu J. Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene. J Formos Med Assoc. 2006;105:518-21 pubmed
    ..A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. This is the first report of TCOF1 gene mutation in the Taiwanese population...
  33. Ng S, Buckingham K, Lee C, Bigham A, Tabor H, Dent K, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010;42:30-5 pubmed publisher
    ..Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits...
  34. Czeschik J, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, et al. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013;132:885-98 pubmed publisher
    ..Our results indicate that the SF3B4 gene is mutated in about half of the patients with the clinical diagnosis of Nager syndrome and further support genetic heterogeneity for this condition. ..
  35. Akre H, Øverland B, Asten P, Skogedal N, Heimdal K. Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol. 2012;269:331-7 pubmed publisher
    ..OSAS is common in TCS, but there is no association with the phenotype severity. Individuals diagnosed with TCS must undergo sleep studies to identify the presence of OSAS...
  36. Mogass M, York T, Li L, Rujirabanjerd S, Shiang R. Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma. Biochem Biophys Res Commun. 2004;325:124-32 pubmed
    ..Thus, expression of Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma cells and we have identified genes that may be important in this pathway...
  37. Splendore A, Passos Bueno M, Jabs E, Van Maldergem L, Wulfsberg E. TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet. 2002;111:324-7 pubmed
  38. Splendore A, Fanganiello R, Masotti C, Morganti L, Passos Bueno M. TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat. 2005;25:429-34 pubmed
  39. Marszałek B, Wojcicki P, Kobus K, Trzeciak W. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet. 2002;43:223-33 pubmed
    ..Most of these mutations are insertions or deletions, which result in an introduction of a premature termination codon into the reading frame. Mutational spectra support the hypothesis that TCS results from haploinsufficiency of treacle...
  40. Hosking J, Zoanetti D, Carlyle A, Anderson P, Costi D. Anesthesia for Treacher Collins syndrome: a review of airway management in 240 pediatric cases. Paediatr Anaesth. 2012;22:752-8 pubmed publisher
    ..Direct laryngoscopy becomes more difficult with increasing age. The laryngeal mask airway is a good choice of airway when endotracheal intubation is not required. ..
  41. Emes R, Ponting C. A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. Hum Mol Genet. 2001;10:2813-20 pubmed
    ..Uncharacterized LisH motif-containing proteins represent candidates for other diseases associated with aberrant microtubule dynamics and defects of cell migration, nucleokinesis or chromosome segregation. ..
  42. Zhang Y, Dai Y, Liu Y, Ren J. Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?. Clin Genet. 2010;78:570-4 pubmed publisher
    ..We present a distinct AFD case with mandibulofacial dysostosis, microtia and limb malformations but without limb defects, which may represent a new form of AFD...
  43. Karaman A, Kahveci H. Unusual acrofacial dysostosis with severe limb defects: a new syndrome. Genet Couns. 2011;22:249-53 pubmed
    ..We report the patient, a 5-day-old-boy with craniofacial dysmorphic features and upper and lower limb defects respectively. ..
  44. Gateno J, Allen M, Teichgraeber J, Messersmith M. An in vitro study of the accuracy of a new protocol for planning distraction osteogenesis of the mandible. J Oral Maxillofac Surg. 2000;58:985-90; discussion 990-1 pubmed
    ..If the results of this study are validated in clinical practice, this protocol will allow clinicians to improve the clinical outcomes of patients treated with distraction osteogenesis. ..
  45. Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, et al. Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. Am J Med Genet A. 2005;134:363-7 pubmed
    ..We have speculated about the molecular mechanisms of the mutations in most cases. Collectively, we have defined some of the characteristic molecular features commonly observed in TCS patients, irrespective of racial difference. ..
  46. Mittman D, Rodman O. Mandibulofacial dysostosis (Treacher Collins syndrome): a case report. J Natl Med Assoc. 1992;84:1051-4 pubmed
    b>Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is a rare congenital anomaly that must be identified in infancy to prevent irrevocable developmental impairment...
  47. Hsu T, Hsu J, Chang S, Chang M. Prenatal three-dimensional sonographic images associated with Treacher Collins syndrome. Ultrasound Obstet Gynecol. 2002;19:413-22 pubmed
  48. Zhang X, Fan Y, Zhang Y, Xue H, Chen X. A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. Int J Pediatr Otorhinolaryngol. 2013;77:1410-5 pubmed publisher
    ..A novel TCOF1 c.4420 C>T mutation can be a cause of TCS in Chinese. We think that genetic studies to assess patients with mandibulofacial dysostosis may assist in making TCS diagnosis and providing consultant for their families.
  49. Zechi Ceide R, Guion Almeida M, Jehee F, Rocha K, Passos Bueno M. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?. Am J Med Genet A. 2010;152A:1838-40 pubmed publisher
    We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss...
  50. Nikkhah D, Ponniah A, Ruff C, Dunaway D. Planning surgical reconstruction in Treacher-Collins syndrome using virtual simulation. Plast Reconstr Surg. 2013;132:790e-805e pubmed publisher
    ..Size-matched stereolithographic templates derived from thin-plate spline warps can provide effective intraoperative templates for zygomatic and mandibular reconstruction in the Treacher-Collins syndrome patient. Diagnostic, V. ..
  51. Roach J, Glusman G, Smit A, Huff C, Hubley R, Shannon P, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010;328:636-9 pubmed publisher
    ..Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four. Our results demonstrate the value of complete genome sequencing in families. ..
  52. Okada R, Kuroda T. Orthodontic treatment for a patient with Treacher-Collins syndrome: a case report. World J Orthod. 2008;9:e37-47 pubmed
    ..After 4 years 6 months of active treatment, Hawley retainers were used for stabilization. An orthodontic treatment in a patient with Treacher-Collins syndrome was completed with a fairly satisfactory result. ..
  53. Sułko J, Kotulski D, Kozlowski K. A variant or a "new" postaxial acrofacial dysostosis syndrome. Eur J Pediatr. 2008;167:1385-8 pubmed publisher
    ..His mental development was normal. We believe that he represents a previously unreported form of the postaxial acrofacial dysostosis syndrome...
  54. Chen J, Liang B, Liu Q, Hu H, Zeng W, Li J. [Diagnostic value of multi-slice spiral CT three dimensional reconstruction in maxillofacial diseases]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2006;28:16-20 pubmed
    ..To evaluate the diagnostic value of multi-slice spiral CT (MSCT) three dimensional (3D) reconstruction for maxillofacial diseases...
  55. Kavadia S, Kaklamanos E, Antoniades K, Lafazanis V, Tramma D. Nager syndrome (preaxial acrofacial dysostosis): a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004;97:732-8 pubmed
  56. Trainor P, Andrews B. Facial dysostoses: Etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013;163C:283-94 pubmed publisher
    ..The ultimate management for any craniofacial anomaly however, would be prevention and we discuss this possibility in relation to facial dysostosis...
  57. Granstrom G, Jacobsson C. First and second branchial arch syndrome: aspects on the embryogenesis, elucidations, and rehabilitation using the osseointegration concept. Clin Implant Dent Relat Res. 1999;1:59-69 pubmed
    ..The osseointegration concept has dramatically changed the possibility of rehabilitating patients with craniofacial defects due to branchial arch syndromes...
  58. Raoul G, Wojcik T, Ferri J. Outcome of mandibular symphyseal distraction osteogenesis with bone-borne devices. J Craniofac Surg. 2009;20:488-93 pubmed publisher
    ..The aim of this clinical study was to report our results with bone-borne device and compare them with previous studies' data to improve our symphyseal distraction protocol and future results...
  59. Fujioka H, Ariga T, Horiuchi K, Ishikiriyama S, Oyama K, Otsu M, et al. Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1. Pediatr Int. 2008;50:806-9 pubmed publisher
    ..TCS is inherited as an autosomal dominant trait, and haploinsufficiency of the TCOF1 gene product treacle is proposed to be etiologically involved...
  60. Clauser L, Polito J, Mandrioli S, Tieghi R, Denes S, Galiè M. Structural fat grafting in complex reconstructive surgery. J Craniofac Surg. 2008;19:187-91 pubmed publisher
    ..In 1988, the American plastic surgeon Sydney R. Coleman personally developed a technique called Structural Fat Grafting (SFG), which allows the fat to be harvested and injected with minimal risk of necrosis and reabsorption...
  61. de Oliveira Lira Ortega A, Liarte Figueiredo Zwir L, Ciamponi A, Guimarães A, Alonso L. Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: clinical case report. Cleft Palate Craniofac J. 2007;44:678-82 pubmed publisher
    ..Significant morphological and functional alterations were observed but without significant documented clinical consequences...
  62. Kiefer J, Arnold W, Staudenmaier R. Round window stimulation with an implantable hearing aid (Soundbridge) combined with autogenous reconstruction of the auricle - a new approach. ORL J Otorhinolaryngol Relat Spec. 2006;68:378-85 pubmed
    ..This report describes a new approach, combining the reconstruction of the auricle with implantation of an active middle ear hearing aid, stimulating the round window membrane...
  63. Wu R, Lawson C, Jabs E, Sanderson S. Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families. Am J Med Genet A. 2012;158A:1556-67 pubmed publisher
  64. Peltomaki T, Grayson B, Vendittelli B, Katzen T, McCarthy J. Moulding of the generate to control open bite during mandibular distraction osteogenesis. Eur J Orthod. 2002;24:639-45 pubmed
    ..Intrusive mechanics may be incorporated into the orthodontic appliances to balance extrusive force by the moulding elastics...
  65. Takegoshi H, Kaga K, Kikuchi S, Ito K. Facial canal anatomy in patients with microtia: evaluation of the temporal bones with thin-section CT. Radiology. 2002;225:852-8 pubmed
    ..To ascertain the location of the facial nerve in patients with microtia by using thin-section computed tomography (CT)...
  66. Tanaka Y, Kanenishi K, Tanaka H, Yanagihara T, Hata T. Antenatal three-dimensional sonographic features of Treacher Collins syndrome. Ultrasound Obstet Gynecol. 2002;19:414-5 pubmed