Genomes and Genes
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)
Publications159 found, 100 shown here
- Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 functionNatalie C Jones
Stowers Institute for Medical Research, 1000 East 50th Street, Kansas City, Missouri 64110, USA
Nat Med 14:125-33. 2008....
- Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines
Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ontario, Canada
Am J Hum Genet 90:369-77. 2012b>Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance...
- Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeJohannes 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...
- Treacher Collins syndrome: etiology, pathogenesis and preventionPaul 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...
- Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier
Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
Am J Hum Genet 90:925-33. 2012....
- "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotypeDaniela 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)...
- Treacher Collins syndrome: unmasking the role of Tcof1/treacleDaisuke 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...
- Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for preventionPaul A Trainor
Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA
Am J Med Genet A 152:2984-94. 2010....
- The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylationBianca Gonzales
Department of Pharmacology, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 14:2035-43. 2005....
- Orofacial functions and oral health associated with Treacher Collins syndromePamela 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...
- A profile of the features and speech in patients with mandibulofacial dysostosisLinda D Vallino-Napoli
The Hospital for Sick Children, Toronto, Ontario, Canada
Cleft Palate Craniofac J 39:623-34. 2002To 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.
- Obstructive sleep apnea in Treacher Collins syndromeHarriet 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...
- Adolescents' perspectives on living and growing up with Treacher Collins syndrome: a qualitative studyLaura 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...
- Treacher Collins syndrome: protocol management from birth to maturityJames 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...
- Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeJ 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. ..
- Treacher Collins syndrome: current evaluation, treatment, and future directionsJ 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...
- Human facial dysostosesD 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...
- Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndromeDagmar Wieczorek
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Am J Med Genet A 149:837-43. 2009Treacher 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 ..
- A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palateMaria 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...
- Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein TreacleJill 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...
- TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding regionC A Wise
Department of Otorhinolaryngology, University of Texas Southwestern Medical Center, Dallas 75235, USA
Proc Natl Acad Sci U S A 94:3110-5. 1997Treacher 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...
- The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminusS 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...
- Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndromeJill 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...
- Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacleK 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...
- Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndromeBozena 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...
- Clinical features, treatment and genetic background of Treacher Collins syndromeBozena 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...
- Parental origin of mutations in sporadic cases of Treacher Collins syndromeAlessandra 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...
- High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changesA 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...
- The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codonS 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...
- Mutation testing in Treacher Collins SyndromeP 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...
- Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndromeToshiya 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....
- Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromesM B Walker
Stowers Institute for Medical Research, Kansas City, MO 64110, USA
Clin Genet 69:471-9. 2006....
- TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclatureAlessandra Splendore
Instituto Nacional de Cancer, Divisão de Genética, Rio de Janeiro, Brazil
Hum Mutat 25:429-34. 2005....
- 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 treacleA Splendore
J Med Genet 39:493-5. 2002
- Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exonsRolando 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...
- Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathiaEric 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....
- Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degenerationS V Goverdhan
Br J Ophthalmol 89:1063-4. 2005
- Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastomaMichael 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...
- Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationOzge 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...
- The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasiaStanley 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...
- Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 genePen 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...
- 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 ..
- Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene productBianca 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...
- Facial canal anatomy in patients with mandibulofacial dysostosis: comparison with respect to the severities of microtia and middle ear deformityHideki Takegoshi
Department of Otorhinolaryngology, Faculty of Medicine, University of Tokyo, Tokyo, Japan
Otol Neurotol 26:803-8. 2005To 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.
- TCOF1 mutations excluded from a role in other first and second branchial arch-related disordersAlessandra Splendore
Am J Med Genet 111:324-7. 2002
- Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndromeJ 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...
- The Rotterdam Palatal Distractor: introduction of the new bone-borne device and report of the pilot studyM 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...
- [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...
- Robin sequence: a retrospective review of 115 patientsAdele 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....
- Dental and facial bone abnormalities in pyknodysostosis: CT findingsK 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...
- Dentigerous cyst after distraction osteogenesis of the mandibleDylan 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...
- Awake tracheal intubation through the laryngeal mask in neonates with upper airway obstructionTakashi Asai
Department of Anaesthesiology, Kansai Medical University, Moriguchi City, Osaka, Japan
Paediatr Anaesth 18:77-80. 2008....
- Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesisKatsumi 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...
- Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: clinical case reportAdriana 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...
- Treacher Collins syndromeJill 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...
- Invited discussion: Surgical treatment of Treacher Collins syndromeJason J Miller
Division of Plastic Surgery, Stanford University Medical Center, Stanford, CA, USA
Ann Plast Surg 56:555-6. 2006
- Analysis of skeletal movements in mandibular distraction osteogenesisKrishna Yeshwant
Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston 02114, USA
J Oral Maxillofac Surg 63:335-40. 2005....
- Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-TeebiMariken Ruiter
Am J Med Genet A 135:344; author reply 345. 2005
- RNAi knockdown of Nopp140 induces Minute-like phenotypes in DrosophilaZhengfang 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...
- Congenital mandibular hypoplasia: analysis and classificationDavinder 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...
- Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndromeShelley 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...
- Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1Katsumi 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...
- A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migrationR 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...
- Effect of distraction osteogenesis of the mandible on upper airway volume and resistance in children with micrognathiaChad 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...
- Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1P Hedera
Department of Pediatrics, Division of Medical Genetics, University of Michigan, MI, USA
J Med Genet 39:484-8. 2002Treacher Collins syndrome (TCS), the most common type of mandibulofacial dysostosis (MFD), is genetically homogeneous...
- Moulding of the generate to control open bite during mandibular distraction osteogenesisTimo 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...
- Imaging the neonatal mandible for accurate distraction osteogenesisJ 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...
- Characterization of the nucleolar gene product, treacle, in Treacher Collins syndromeC 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...
- A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interactionCibele 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...
- Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndromeBrenda 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. 2004Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo...
- Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacleN 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...
- 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. 2007Round window atresia can be seen in association with syndromal anomalies such as mandibulofacial dysostosis, Mondini type anomalies or cretinism, or with extensive otosclerosis...
- [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...
- Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18W 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. 1997Mutations in the human TCOF1 gene have been identified in patients with Treacher Collins Syndrome (Mandibulofacial Dysostosis), an autosomal dominant condition affecting the craniofacial region...
- Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesisA W Bates
Department of Histopathology and Morbid Anatomy, Institute of Pathology, The Royal London Hospital, UK
Clin Dysmorphol 11:63-6. 2002We 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 ..
- [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.
- Mandibulofacial dysostosis: CT evaluation of the temporal bones for surgical risk assessment in patients of bilateral aural atresiaH 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. 2000We 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...
- Fiberoptic tracheal intubation through a classicial laryngeal mask airway under spontaneous ventilation in a child with Treacher Collins syndromeKuo 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....
- Hearing loss in the Treacher-Collins syndromeHenri 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...
- [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...
- Oral health-related quality of life of children with craniofacial conditionsL 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...
- Marathon of eponyms: 20 Treacher Collins syndromeC 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...
- Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expressionKathryn 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. 2008Treacher Collins syndrome is an autosomal-dominant mandibulofacial dysostosis caused by haploinsufficiency of the TCOF1 gene product treacle...
- Planning surgical reconstruction in Treacher-Collins syndrome using virtual simulationDariush 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...
- The change of difficult intubation with growth in a patient with treacher Collins syndromeGaku Inagawa
Anesth Analg 99:1874. 2004
- Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patientsAlfredo 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...
- Revisiting Mendelian disorders through exome sequencingChee 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....
- Guarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathwayAnirban 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...
- Improved facial outcome assessment using a 3D anthropometric maskP 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...
- Craniofacial structures and dental development in three patients with Nager syndromeKatri 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...
- Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and causeR 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...
- The first reported treatment of Nager syndrome associated hearing loss with bone-anchored hearing aids: case reportG 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...
- Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe 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...
- Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patientsJingxian 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....
- New closed skin bone-anchored implant: preliminary results in 6 children with ear atresiaFrancoise 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...
- Orthodontic treatment for a patient with Treacher-Collins syndrome: a case reportRyoji 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...
- Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotypeAnastasia E Konstantinidou
1st Department of Pathology, School of Medicine, University of Athens, Athens, Greece
Birth Defects Res A Clin Mol Teratol 97:774-80. 2013Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance...
- Induced and genetic mouse middle ear ossicular malformations: a model for human malformative ossicular diseases and a tool for clarifying their normal ontogenesisS 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...
- 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. 2010We 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...
- 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...
- Exome sequencing identifies the cause of a mendelian disorderSarah 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...
- Regulation of Treacher Collins Syndrome TCOF1 geneKATHRYN SHOWS; Fiscal Year: 2007....