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. pmc Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
    Natalie C Jones
    Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, Missouri 64110, USA
    Nat Med 14:125-33. 2008
  2. pmc Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
    Matthew A Lines
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ontario, Canada
    Am J Hum Genet 90:369-77. 2012
  3. ncbi Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
    Johannes G Dauwerse
    Center for Human and Clinical Genetics, Leiden University Medical Center LUMC, Leiden, The Netherlands
    Nat Genet 43:20-2. 2011
  4. pmc Treacher Collins syndrome: etiology, pathogenesis and prevention
    Paul A Trainor
    Stowers Institute for Medical Research, Kansas City, MO 64110, USA
    Eur J Hum Genet 17:275-83. 2009
  5. pmc Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
    Francois P Bernier
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Am J Hum Genet 90:925-33. 2012
  6. pmc "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype
    Daniela V Luquetti
    Department of Pediatrics, University of Washington, Seattle, WA, USA
    Am J Med Genet A 161:108-13. 2013
  7. pmc Treacher Collins syndrome: unmasking the role of Tcof1/treacle
    Daisuke Sakai
    Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, MO 64110, USA
    Int J Biochem Cell Biol 41:1229-32. 2009
  8. pmc Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention
    Paul A Trainor
    Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA
    Am J Med Genet A 152:2984-94. 2010
  9. ncbi The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation
    Bianca Gonzales
    Department of Pharmacology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:2035-43. 2005
  10. ncbi Orofacial functions and oral health associated with Treacher Collins syndrome
    Pamela Asten
    TAKO Centre, National Resource Centre for Oral Health in Rare Medical Conditions, Lovisenberg Diakonale Hospital, 0440 Oslo, Norway
    Acta Odontol Scand 71:616-25. 2013

Research Grants

Detail Information

Publications159 found, 100 shown here

  1. pmc Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
    Natalie C Jones
    Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, Missouri 64110, USA
    Nat Med 14:125-33. 2008
    ....
  2. pmc Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
    Matthew A Lines
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ontario, Canada
    Am J Hum Genet 90:369-77. 2012
    b>Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance...
  3. ncbi Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
    Johannes G Dauwerse
    Center for Human and Clinical Genetics, Leiden University Medical Center LUMC, Leiden, The Netherlands
    Nat Genet 43:20-2. 2011
    ..These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy...
  4. pmc Treacher Collins syndrome: etiology, pathogenesis and prevention
    Paul A Trainor
    Stowers Institute for Medical Research, Kansas City, MO 64110, USA
    Eur J Hum Genet 17:275-83. 2009
    ..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...
  5. pmc Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
    Francois P Bernier
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Am J Hum Genet 90:925-33. 2012
    ....
  6. pmc "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype
    Daniela V Luquetti
    Department of Pediatrics, University of Washington, Seattle, WA, USA
    Am J Med Genet A 161:108-13. 2013
    ..in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536)...
  7. pmc Treacher Collins syndrome: unmasking the role of Tcof1/treacle
    Daisuke Sakai
    Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, MO 64110, USA
    Int J Biochem Cell Biol 41:1229-32. 2009
    ..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...
  8. pmc Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention
    Paul A Trainor
    Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA
    Am J Med Genet A 152:2984-94. 2010
    ....
  9. ncbi The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation
    Bianca Gonzales
    Department of Pharmacology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:2035-43. 2005
    ....
  10. ncbi Orofacial functions and oral health associated with Treacher Collins syndrome
    Pamela Asten
    TAKO Centre, National Resource Centre for Oral Health in Rare Medical Conditions, Lovisenberg Diakonale Hospital, 0440 Oslo, Norway
    Acta Odontol Scand 71:616-25. 2013
    ..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...
  11. ncbi A profile of the features and speech in patients with mandibulofacial dysostosis
    Linda D Vallino-Napoli
    The Hospital for Sick Children, Toronto, Ontario, Canada
    Cleft Palate Craniofac J 39:623-34. 2002
    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.
  12. pmc Obstructive sleep apnea in Treacher Collins syndrome
    Harriet Akre
    Sleep Unit, Department of Otorhinolaryngology Head and Neck Surgery, Lovisenberg Diakonale Hospital, 0440 Oslo, Norway
    Eur Arch Otorhinolaryngol 269:331-7. 2012
    ..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...
  13. ncbi Adolescents' perspectives on living and growing up with Treacher Collins syndrome: a qualitative study
    Laura Beaune
    Centre for Craniofacial Care and Research at The Hospital for Sick Children, Toronto, Ontario, Canada
    Cleft Palate Craniofac J 41:343-50. 2004
    ..This study explored the experiences and essences of growing up and living with Treacher Collins syndrome (TCS) from an adolescent perspective...
  14. ncbi Treacher Collins syndrome: protocol management from birth to maturity
    James T Thompson
    Department of Plastic and Reconstructive Surgery, Wake Forest University School of Medicine, Winston Salem, NC, USA
    J Craniofac Surg 20:2028-35. 2009
    ..This article reviews the experience at the Australian Craniofacial Unit and describes the protocol for management...
  15. ncbi Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
    J C Czeschik
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Germany
    Hum Genet 132:885-98. 2013
    ..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. ..
  16. ncbi Treacher Collins syndrome: current evaluation, treatment, and future directions
    J C Posnick
    Posnick Center for Facial Plastic Surgery, Chevy Chase, Maryland 20815, USA
    Cleft Palate Craniofac J 37:434. 2000
    ..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...
  17. ncbi Human facial dysostoses
    D Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    Clin Genet 83:499-510. 2013
    ..Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date...
  18. ncbi Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 149:837-43. 2009
    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 ..
  19. ncbi A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
    Maria Leine Guion-Almeida
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, University of Sao Paulo USP, SP, Bauru, Brazil
    Clin Dysmorphol 15:171-4. 2006
    ..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...
  20. ncbi 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
    Jill Dixon
    School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, United Kingdom
    Dev Dyn 229:907-14. 2004
    ..The results of our studies indicate that factors in the different genetic backgrounds contribute extensively to the Tcof1 phenotype...
  21. pmc TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region
    C A Wise
    Department of Otorhinolaryngology, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Proc Natl Acad Sci U S A 94:3110-5. 1997
    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...
  22. ncbi The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus
    S T Winokur
    Department of Biological Chemistry, University of California, Irvine, CA 92697, USA
    Hum Mol Genet 7:1947-52. 1998
    ..This study provides the first direct analysis of treacle and demonstrates that the protein involved in TCOF1 is a nucleolar protein...
  23. ncbi Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome
    Jill Dixon
    School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, England
    Am J Med Genet A 127:244-8. 2004
    ..In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families...
  24. ncbi Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle
    K L Marsh
    School of Biological Sciences and Departments of Dental Medicine and Surgery, 3 239, Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Hum Mol Genet 7:1795-800. 1998
    ..TCS is, therefore, the first Mendelian disorder resulting from mutations which lead to aberrant expression of a nucleolar protein...
  25. ncbi Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome
    Bozena Marszalek
    Department of Biochemistry and Molecular Biology, University of Medical Sciences, 6 Swiecickiego St, 60 781 Poznan, Poland
    Am J Med Genet A 123:169-71. 2003
    ..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...
  26. ncbi Clinical features, treatment and genetic background of Treacher Collins syndrome
    Bozena Marszałek
    Department of Biochemistry and Molecular Biology, K Marcinkowski University of Medical Sciences, Poznan, Poland
    J Appl Genet 43:223-33. 2002
    ..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...
  27. ncbi Parental origin of mutations in sporadic cases of Treacher Collins syndrome
    Alessandra Splendore
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matão 277, CEP 05508 900, Cidade Universitaria, Sao Paulo, SP, Brazil
    Eur J Hum Genet 11:718-22. 2003
    ..A discussion on the parental origin of mutations and paternal age effect in other diseases is included...
  28. ncbi High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
    A Splendore
    Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Hum Mutat 16:315-22. 2000
    ..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...
  29. pmc The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon
    S J Edwards
    School of Biological Sciences and Department of Dental Medicine, University of Manchester, United Kingdom
    Am J Hum Genet 60:515-24. 1997
    ..This mutational spectrum supports the hypothesis that TCS results from haploinsufficiency...
  30. ncbi Mutation testing in Treacher Collins Syndrome
    P E Ellis
    Orthodontic Department, Charles Clifford Dental Hospital, Sheffield, UK
    J Orthod 29:293-7; discussion 278. 2002
    ..To report on a study where 97 subjects were screened for mutations in the Treacher Collins syndrome (TCS) gene TCOF1...
  31. ncbi Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome
    Toshiya Hayano
    Department of Applied Biological Science, Tokyo University of Agriculture and Technology, 3 5 8 Saiwai cho, Fuchu, Tokyo 183 8509
    J Biol Chem 278:34309-19. 2003
    ....
  32. ncbi Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes
    M B Walker
    Stowers Institute for Medical Research, Kansas City, MO 64110, USA
    Clin Genet 69:471-9. 2006
    ....
  33. ncbi TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature
    Alessandra Splendore
    Instituto Nacional de Cancer, Divisão de Genética, Rio de Janeiro, Brazil
    Hum Mutat 25:429-34. 2005
    ....
  34. pmc 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
    A Splendore
    J Med Genet 39:493-5. 2002
  35. ncbi Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons
    Rolando B So
    Department of Pharmacology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Gene 328:49-57. 2004
    ..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...
  36. ncbi Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathia
    Eric J Stelnicki
    Institute of Reconstructive Plastic Surgery, New York University Medical Center, New York, NY 10016, USA
    Plast Reconstr Surg 109:1819-25; discussion 1826-7. 2002
    ....
  37. pmc Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration
    S V Goverdhan
    Br J Ophthalmol 89:1063-4. 2005
  38. ncbi Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma
    Michael Mogass
    Department of Human Genetics, Virginia Commonwealth University Medical Center, P O Box 980033, Richmond, VA 23298 0033, USA
    Biochem Biophys Res Commun 325:124-32. 2004
    ..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...
  39. ncbi Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
    Ozge Altug Teber
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Eur J Hum Genet 12:879-90. 2004
    ..The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described...
  40. ncbi The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia
    Stanley D W Miller
    Department of Respiratory Medicine, St Vincent s University Hospital, Dublin, Ireland
    Respirology 15:377-9. 2010
    ..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...
  41. ncbi Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene
    Pen Hua Su
    Institute of Medicine, Chung Shan Medical University, Chung Shan Medical University Hospital, Taichung, Taiwan
    J Formos Med Assoc 105:518-21. 2006
    ..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...
  42. ncbi Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
    Gustavo H B Maegawa
    The Hospital for Sick Children, Department of Pediatrics, Divisions of Clinical and Metabolic Genetics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Clin Dysmorphol 15:191-6. 2006
    ..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 ..
  43. ncbi Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product
    Bianca Gonzales
    Department of Pharmacology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 USA
    Gene 359:73-80. 2005
    ..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...
  44. ncbi Facial canal anatomy in patients with mandibulofacial dysostosis: comparison with respect to the severities of microtia and middle ear deformity
    Hideki Takegoshi
    Department of Otorhinolaryngology, Faculty of Medicine, University of Tokyo, Tokyo, Japan
    Otol Neurotol 26:803-8. 2005
    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.
  45. ncbi TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders
    Alessandra Splendore
    Am J Med Genet 111:324-7. 2002
  46. ncbi Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome
    J Dixon
    School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, UK
    Hum Mol Genet 9:1473-80. 2000
    ..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...
  47. ncbi The Rotterdam Palatal Distractor: introduction of the new bone-borne device and report of the pilot study
    M J Koudstaal
    Department of Oral and Maxillofacial Surgery, Craniofacial Center, Sophia Children s Hospital, Erasmus University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
    Int J Oral Maxillofac Surg 35:31-5. 2006
    ..This new distractor is presented and the data of five acquired deformity and eight congenital deformity patients that were treated with this distractor are reported...
  48. ncbi [Musculoskeletal connections. Study of two cases of oto-mandibular dysplasia]
    E Falque
    Orthod Fr 76:229-38. 2005
    ..The observations in tomodensitometry of musculo-skeletal connections in otomandibular dysostosis make it possible qualitatively to observe the development of the muscles and their functions...
  49. ncbi Robin sequence: a retrospective review of 115 patients
    Adele Karen Evans
    Massachusetts Eye and Ear Infirmary, Department of Otolaryngology, 243 Charles Street, Boston, MA 02114, USA
    Int J Pediatr Otorhinolaryngol 70:973-80. 2006
    ....
  50. ncbi Dental and facial bone abnormalities in pyknodysostosis: CT findings
    K W Fleming
    Department of Radiology, Boston University Medical Center, Boston, MA, USA
    AJNR Am J Neuroradiol 28:132-4. 2007
    ..Volume-rendered imaging better delineated the irregular dentition, with crowding and retention of deciduous teeth...
  51. ncbi Dentigerous cyst after distraction osteogenesis of the mandible
    Dylan John Murray
    The Centre for Craniofacial Care and Research, Hospital for Sick Children, Toronto, Ontario, Canada
    J Craniofac Surg 18:1349-52. 2007
    ..The possible histogenic mechanisms and the management are outlined. Understanding the causes of dentigerous cysts as well as the anatomy of the neonatal mandible may help avoid such a complication in the future...
  52. ncbi Awake tracheal intubation through the laryngeal mask in neonates with upper airway obstruction
    Takashi Asai
    Department of Anaesthesiology, Kansai Medical University, Moriguchi City, Osaka, Japan
    Paediatr Anaesth 18:77-80. 2008
    ....
  53. ncbi Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis
    Katsumi Horiuchi
    Department of Plastic and Reconstructive Surgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Am J Med Genet A 134:363-7. 2005
    ..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...
  54. ncbi Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: clinical case report
    Adriana de Oliveira Lira Ortega
    Department of Orthodontics and Pediatric Dentistry, School of Dentistry, Sao Paulo University, Brazil
    Cleft Palate Craniofac J 44:678-82. 2007
    ..Significant morphological and functional alterations were observed but without significant documented clinical consequences...
  55. ncbi Treacher Collins syndrome
    Jill Dixon
    School of Dentistry, University of Manchester, Manchester, UK
    Orthod Craniofac Res 10:88-95. 2007
    ..These combined advances have already impacted on clinical practice and provide invaluable resources for the continued dissection of the developmental basis of TCS...
  56. ncbi Invited discussion: Surgical treatment of Treacher Collins syndrome
    Jason J Miller
    Division of Plastic Surgery, Stanford University Medical Center, Stanford, CA, USA
    Ann Plast Surg 56:555-6. 2006
  57. ncbi Analysis of skeletal movements in mandibular distraction osteogenesis
    Krishna Yeshwant
    Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston 02114, USA
    J Oral Maxillofac Surg 63:335-40. 2005
    ....
  58. ncbi Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi
    Mariken Ruiter
    Am J Med Genet A 135:344; author reply 345. 2005
  59. pmc RNAi knockdown of Nopp140 induces Minute-like phenotypes in Drosophila
    Zhengfang Cui
    Department of Biological Sciences, Louisiana State University, Baton Rouge, LA 70803, USA
    Mol Biol Cell 18:2179-91. 2007
    ..Similarly, overexpression of either isoform caused embryonic and larval lethality, thus indicating proper expression of Nopp140 is critical for normal development...
  60. ncbi Congenital mandibular hypoplasia: analysis and classification
    Davinder J Singh
    Division of Plastic Surgery, University of Pennsylvania School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA
    J Craniofac Surg 16:291-300. 2005
    ..Of these 266 patients, 148 presented with oculo-auriculo-vertebral (OAV) spectrum, 52 with mandibulofacial dysostosis, 31 with Pierre Robin sequence, and 17 with miscellaneous syndromes...
  61. ncbi Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome
    Shelley J Kennedy
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 129:73-6. 2004
    ..We postulate that the inheritance is autosomal recessive on the basis of similarly affected male and female sibs...
  62. ncbi Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1
    Katsumi Horiuchi
    Department of Plastic and Reconstructive Surgery, Hokkaido University Graduate School of Medicine, Hokkaido, Japan
    Am J Med Genet A 128:173-5. 2004
    ..Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation...
  63. ncbi A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration
    R D Emes
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK
    Hum Mol Genet 10:2813-20. 2001
    ..Uncharacterized LisH motif-containing proteins represent candidates for other diseases associated with aberrant microtubule dynamics and defects of cell migration, nucleokinesis or chromosome segregation...
  64. ncbi Effect of distraction osteogenesis of the mandible on upper airway volume and resistance in children with micrognathia
    Chad A Perlyn
    Cleft Palate and Craniofacial Deformities Institute, Division of Plastic Surgery, St Louis Children s Hospital, St Louis, MO 63110, USA
    Plast Reconstr Surg 109:1809-18. 2002
    ..The artificial rigidity of the stereolithographic "airway" compared with the elasticity of the human upper airway may account for the insensitivity of this model to smaller but clinically significant airway changes...
  65. pmc Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1
    P Hedera
    Department of Pediatrics, Division of Medical Genetics, University of Michigan, MI, USA
    J Med Genet 39:484-8. 2002
    Treacher Collins syndrome (TCS), the most common type of mandibulofacial dysostosis (MFD), is genetically homogeneous...
  66. ncbi Moulding of the generate to control open bite during mandibular distraction osteogenesis
    Timo Peltomaki
    Department of Oral Development and Orthodontics, Institute of Dentistry, University of Turku, Finland
    Eur J Orthod 24:639-45. 2002
    ..Intrusive mechanics may be incorporated into the orthodontic appliances to balance extrusive force by the moulding elastics...
  67. ncbi Imaging the neonatal mandible for accurate distraction osteogenesis
    J T Katzen
    Institute of Reconstructive Plastic Surgery, New York University Medical Center, 560 1st Avenue, New York, NY 10016, USA
    J Craniofac Surg 12:26-30. 2001
    ..This curved, reformatted mandibular image provides accurate visualization of the mandible and mandibular teeth. This technique allows for precise pin placement and osteotomy in distraction osteogenesis...
  68. pmc Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome
    C Isaac
    Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Mol Biol Cell 11:3061-71. 2000
    ..Therefore, cells of TCS patients possess a mechanism to maintain wild-type levels of full-length treacle from a single allele...
  69. ncbi A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction
    Cibele Masotti
    Instituto de Biociencias, Universidade de Sao Paulo, Departamento de Biologia, Rua do Matao, 277 Sala 200, 05508 900 São Paulo SP, Brazil
    Gene 359:44-52. 2005
    ..This promoter variant represents a candidate allele to explain the clinical variability in patients bearing TCS...
  70. ncbi Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome
    Brenda A Shoo
    Department of Pediatrics, Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, The Johns Hopkins University, Baltimore, Maryland 21287 3914, USA
    Am J Med Genet A 126:84-8. 2004
    Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo...
  71. ncbi Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle
    N C Jones
    Murdoch Institute, Royal Children s Hospital, Flemington Road, Parkville, Victoria 3052, Australia
    Hum Mol Genet 8:2239-45. 1999
    ..This activity coincides with the reported high expression of treacle in these tissues at early developmental stages and declines later in development...
  72. ncbi Non-syndromal round window atresia: an autosomal dominant genetic disorder with variable penetrance?
    A Borrmann
    Department of Otolaryngology Head and Neck Surgery, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany
    Eur Arch Otorhinolaryngol 264:1103-8. 2007
    Round window atresia can be seen in association with syndromal anomalies such as mandibulofacial dysostosis, Mondini type anomalies or cretinism, or with extensive otosclerosis...
  73. ncbi [Diagnosis and logopedic rehabilitation in mandibulofacial dysostosis: a case report]
    G Valentino
    Sezione di Audiofonologia, A O di Avellino
    Acta Otorhinolaryngol Ital 16:136-9. 1996
    ..Treacher Collins-Franceschetti have a very good chance of being inserted into society furthermore improved by the absence lack of mental deficiency and by spontaneous improvement in physical appearance...
  74. ncbi Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18
    W A Paznekas
    Department of Pediatrics, Medicine, and Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 3914, USA
    Biochem Biophys Res Commun 238:1-6. 1997
    Mutations in the human TCOF1 gene have been identified in patients with Treacher Collins Syndrome (Mandibulofacial Dysostosis), an autosomal dominant condition affecting the craniofacial region...
  75. ncbi Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis
    A W Bates
    Department of Histopathology and Morbid Anatomy, Institute of Pathology, The Royal London Hospital, UK
    Clin Dysmorphol 11:63-6. 2002
    We report a female fetus with a previously undescribed form of mandibulofacial dysostosis with mesomelic limb abnormalities, pre- and post-axial defects of the hands, bilateral renal agenesis, bicornuate uterus, and a single umbilical ..
  76. ncbi [Hemifacial microsomia. Embryological and clinical approach]
    J B Charrier
    Institut d embryologie cellulaire et moléculaire du CNRS et du Collège de France FRE 2160, 49 bis, avenue de la Belle Gabrielle, 94736 Nogent sur Marne, France
    Ann Chir Plast Esthet 46:385-99. 2001
    ..A clinical approach to hemifacial microsomia is proposed. Current pathogenetic hypotheses of hemifacial microsomia and also mandibulofacial dysostosis are reviewed.
  77. ncbi Mandibulofacial dysostosis: CT evaluation of the temporal bones for surgical risk assessment in patients of bilateral aural atresia
    H Takegoshi
    Department of Otorhinolaryngology, Faculty of Medicine, University of Tokyo, Hongo 7 3 1, Bunkyo ku, Tokyo 113 8655, Japan
    Int J Pediatr Otorhinolaryngol 54:33-40. 2000
    We present the results of detailed CT investigation of nine patients with mandibulofacial dysostosis (MFD). We also graded the severity of microtia according to Marx's classification system...
  78. ncbi Fiberoptic tracheal intubation through a classicial laryngeal mask airway under spontaneous ventilation in a child with Treacher Collins syndrome
    Kuo Chuan Hung
    Department of Anesthesiology, Chang Gung Memorial Hospital Kaohsiung Medical Center, Chang Gung University College of Medicine, Niao Sung, Kaohsiung, Taiwan, ROC
    Acta Anaesthesiol Taiwan 44:223-6. 2006
    ....
  79. ncbi Hearing loss in the Treacher-Collins syndrome
    Henri A M Marres
    Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, The Netherlands
    Adv Otorhinolaryngol 61:209-15. 2002
    ..In general, it is recommended to start hearing rehabilitation at the earliest possible stage. Owing to the above-described anomalies, rehabilitation usually involves fitting a BAHA, whether or not in combination with a pinna epithesis...
  80. ncbi [Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]
    Myriam Chaabouni
    Service des maladies congénitales et héréditaires, Hopital Charles Nicolle, Tunis
    Tunis Med 85:885-90. 2007
    ..Family at risk might have genetic counselling and probably prenatal diagnostic in some situations. Out of our observations, we gave genetic counselling and proposed ultrasound prenatal diagnosis for two families without molecular study...
  81. ncbi Oral health-related quality of life of children with craniofacial conditions
    L M Geels
    Department of Orthodontics, Academic Centre for Dentistry, Amsterdam ACTA, Amsterdam, Netherlands
    Cleft Palate Craniofac J 45:461-7. 2008
    ..The internal consistency and the predictive validity of the COHIP for self-reported general health were examined...
  82. ncbi Marathon of eponyms: 20 Treacher Collins syndrome
    C Scully
    UCL Eastman Dental Institute, University College London, London, UK
    Oral Dis 17:619-20. 2011
    ..The information is based largely on data available from MEDLINE and a number of internet websites as noted below: the authors would welcome any corrections. This document summarizes data about Treacher Collins syndrome...
  83. pmc Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression
    Kathryn H Shows
    Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia 23298 0033, USA
    DNA Cell Biol 27:589-600. 2008
    Treacher Collins syndrome is an autosomal-dominant mandibulofacial dysostosis caused by haploinsufficiency of the TCOF1 gene product treacle...
  84. ncbi Planning surgical reconstruction in Treacher-Collins syndrome using virtual simulation
    Dariush Nikkhah
    East Grinstead and London, United Kingdom From East Grinstead Hospital Great Ormond Street Hospital and University College London
    Plast Reconstr Surg 132:790e-805e. 2013
    ..The authors aimed to design standardized tools for planning orbitozygomatic and mandibular reconstruction in Treacher-Collins syndrome using geometric morphometrics...
  85. ncbi The change of difficult intubation with growth in a patient with treacher Collins syndrome
    Gaku Inagawa
    Anesth Analg 99:1874. 2004
  86. ncbi Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients
    Alfredo Tabith
    Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Brazil
    Am J Med Genet A 122:133-8. 2003
    ..This report confirms the data on the first five patients we had already presented in 1996...
  87. ncbi Revisiting Mendelian disorders through exome sequencing
    Chee Seng Ku
    Department of Epidemiology and Public Health, Centre for Molecular Epidemiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
    Hum Genet 129:351-70. 2011
    ....
  88. ncbi Guarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathway
    Anirban Chakraborty
    Frontier Science Research Center, University of Miyazaki, Miyazaki, Japan
    Wiley Interdiscip Rev RNA 2:507-22. 2011
    ..A challenge for future studies will be to identify additional players in this signaling pathway and to elucidate the underlying molecular mechanisms that link defective ribosome synthesis to p53...
  89. ncbi Improved facial outcome assessment using a 3D anthropometric mask
    P Claes
    K U Leuven, Medical Imaging Research Center, Faculty of Engineering, Department of Electrical Engineering ESAT, Center for Processing Speech and Images, Herestraat 49, Leuven, Belgium
    Int J Oral Maxillofac Surg 41:324-30. 2012
    ..Comparisons were made with a reported closest-point (CP) strategy. Contrasting outcomes were found where the CP strategy resulted in anatomical implausibility whilst the AM technique was parsimonious to expected differences...
  90. ncbi Craniofacial structures and dental development in three patients with Nager syndrome
    Katri Halonen
    Cleft Palate Centre, Department of Plastic Surgery, Helsinki University Central Hospital, Helsinki, Finland
    J Craniofac Surg 17:1180-7. 2006
    ..As a result of severe dentofacial deviation, a treatment process through the growth requires multidisciplinary teamwork of surgeons, pediatrists, orthodontists and prosthodontists...
  91. ncbi Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause
    R G Plomp
    Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    Int J Oral Maxillofac Surg 41:696-701. 2012
    ..Non-invasive ventilation (continuous positive airway pressure or bilevel positive airway pressure) or tracheotomy should be considered as a treatment modality...
  92. ncbi The first reported treatment of Nager syndrome associated hearing loss with bone-anchored hearing aids: case report
    G P Davies
    Newcastle University Medical School, Newcastle upon Tyne, UK
    J Laryngol Otol 126:76-8. 2012
    ..To report the first case of treatment of Nager syndrome associated conductive hearing loss with bone-anchored hearing aids, in a three-year-old boy...
  93. ncbi Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
    Joe Rainger
    MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh, UK
    Hum Mol Genet 21:3969-83. 2012
    ..The developmental sensitivity to reduced pyrimidine synthesis capacity may reflect the requirement for an exceptional mitogenic response to growth factor signalling in the affected tissues...
  94. pmc Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients
    Jingxian Fang
    Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Maidashi, Higashi ku, Fukuoka, Japan
    Biosci Rep 32:631-9. 2012
    ....
  95. ncbi New closed skin bone-anchored implant: preliminary results in 6 children with ear atresia
    Francoise Denoyelle
    Otolaryngology Head and Neck Surgery Department, Armand Trousseau Children Hospital, 26 avenue du Dr Arnold Netter, Paris, France
    Otol Neurotol 34:275-81. 2013
    ..To report preliminary results of a new closed-skin, transcutaneous bone conduction device (BCD) in 6 children with high-grade ear atresia...
  96. ncbi Orthodontic treatment for a patient with Treacher-Collins syndrome: a case report
    Ryoji Okada
    Orthodontic Specialist, Seido Dental Clinic, Tamashima, Kurashiki, Okayama, Japan
    World J Orthod 9:e37-47. 2008
    ..To demonstrate an orthodontic approach for a patient with Treacher-Collins syndrome...
  97. ncbi Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype
    Anastasia E Konstantinidou
    1st Department of Pathology, School of Medicine, University of Athens, Athens, Greece
    Birth Defects Res A Clin Mol Teratol 97:774-80. 2013
    Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance...
  98. ncbi Induced and genetic mouse middle ear ossicular malformations: a model for human malformative ossicular diseases and a tool for clarifying their normal ontogenesis
    S Louryan
    Laboratoire d Anatomie et Embryologie Humaines, Universite Libre de Bruxelles, Faculte de Medecine, Belgique
    Surg Radiol Anat 14:227-32. 1992
    ..middle ear ossicles, associated with a general kind of craniofacial dysmorphogenesis evoking the human mandibulofacial dysostosis. The malleus, incus and stapes are affected...
  99. ncbi 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?
    Roseli Maria Zechi-Ceide
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
    Am J Med Genet A 152:1838-40. 2010
    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...
  100. ncbi Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
    Y Zhang
    Key Laboratory of Laboratory Medical Diagnostics, Chongqing Medical University, Ministry of Education, Chongqing 400016, PR China
    Clin Genet 78:570-4. 2010
    ..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...
  101. pmc Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:30-5. 2010
    ..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...

Research Grants2

  1. Regulation of Treacher Collins Syndrome TCOF1 gene
    KATHRYN SHOWS; Fiscal Year: 2007
    ....