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)
Publications137 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....
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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....
- 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...
- 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...
- "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)...
- 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 ..
- 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.
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- TCOF1 mutations excluded from a role in other first and second branchial arch-related disordersAlessandra Splendore
Am J Med Genet 111:324-7. 2002
- 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
- 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....
- 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...
- 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....
- 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...
- 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....
- 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....
- 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 ..
- 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
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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....
- 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...
- 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...
- 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....
- 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
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
- 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....
- 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...
- [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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- [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...
- 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.
- 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...
- 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...
- 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...
- 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...
- 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....
- 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...
- 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...
- The nosology of Richieri-Costa/Guion-Almeida syndrome(s)Marco Castori
Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
Am J Med Genet A 155:398-402. 2011..By comparing the present and previously reported patients with RCGAS1 and 2, we tried to contribute to syndrome delineation and to separate them from conditions with similar facial anomalies...
- Extra phenotypic features in a girl with Miller syndromeAli Al Kaissi
Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria
Clin Dysmorphol 20:66-72. 2011..Interestingly, the father had a history of postaxial polydactyly. We speculated that the postaxial polydactyly in the father was either a heterozygote manifestation or is unrelated...
- Clinical and imaging correlations of Treacher Collins syndrome: report of two casesMarina H C G Magalhaes
Dentistry School, University of Sao Paulo, Sao Paulo, SP, Brazil
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 103:836-42. 2007b>Mandibulofacial dysostosis (Treacher Collins Syndrome) is an autosomal dominant genetic disorder that probably derives from inhibition of the facial structures from the first and second branchial arches...
- Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case reportAlicia McFarren
Department of Pediatrics, New York Medical College, and Maria Fareri Children s Hospital, Valhalla, New York 10595, USA
J Pediatr Hematol Oncol 29:338-40. 2007..Herein, we describe a female infant with multiple midline defects associated with DBA and reaffirm the absence of RPS-19 mutations in DBA patients with facial anomalies...
- 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...
- Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene clusterDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 143:1053-9. 2007Treacher Collins syndrome (TCS) is the prototypical mandibulofacial dysostosis syndrome, but other mandibulofacial dysostosis syndromes have been described...
- 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...
- 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...
- A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exonD Macaya
Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA
Am J Med Genet A 149:1624-7. 2009..3612A > C mutation. This study highlights the importance of clinical and pedigree evaluation in the interpretation of known and novel sequence alterations...
- Saving face: rescuing a craniofacial birth defectSonja Jane McKeown
Nat Med 14:115-6. 2008
- A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndromeCarlton V Horbelt
Division of Pediatric and Community Oral Health, University of Tennessee College of Dentistry, Memphis, USA
Gen Dent 56:416-9. 2008
- Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1Hirotaka Fujioka
Research Group of Human Gene Therapy, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan
Pediatr Int 50:806-9. 2008..TCS is inherited as an autosomal dominant trait, and haploinsufficiency of the TCOF1 gene product treacle is proposed to be etiologically involved...
- 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...
- Clinical experience with the application of distraction osteogenesis for airway obstructionDavid G Genecov
International Craniofacial Institute Cleft Lip and Palate Treatment Center, Dallas, Texas 75230, USA
J Craniofac Surg 20:1817-21. 2009..They all met the criteria for a multidisciplinary team evaluation consisting of upper airway endoscopy, swallowing evaluations, standard overnight polysomnography, and radiologic evaluations of the airway and craniofacial structures...
- CAD/CAM bilateral ear prostheses construction for Treacher Collins syndrome patients using laser scanning and rapid prototypingLeonardo Ciocca
Department of Oral Sciences, University of Bologna, Via S Vitale 59, Bologna 40126, Italy
Comput Methods Biomech Biomed Engin 13:379-86. 2010....
- Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndromePen Hua Su
Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan
Clin Dysmorphol 16:261-7. 2007..These observations strongly suggest that the TCOF1 genetic changes observed in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms...
- The use of three-dimensional computed tomography images for anticipated difficult intubation airway evaluation of a patient with Treacher Collins syndromeYusuke Nagamine
Department of Anesthesiology and Critical Care Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Anesth Analg 105:626-8. 2007..We took three-dimensional computed tomography images to better evaluate the anatomical features of the upper airway. The patient's anesthetic airway management was influenced by the findings of the images...
- [Embryology of the face and oto-mandibular dysplasia]Jean Baptiste Charrier
Service de chirurgie de la face et du cou du Pr Bobin, CHU de Bicetre, AP HP, 78, Avenue du General Leclerc, 94275 Kremlin Bicetre Cedex, France
Orthod Fr 78:7-24. 2007Otomandibular dysplasias encompass a broad range of congenital malformations (hemifacial microsomia, mandibulofacial dysostosis) affecting both jaw and ear apparatus...
- Otologic and audiologic features of Nager acrofacial dysostosisBrian W Herrmann
Washington University School of Medicine, Department of Otolaryngology Head and Neck Surgery, Washington, DC, USA
Int J Pediatr Otorhinolaryngol 69:1053-9. 2005..To describe the otologic and audiologic characteristics of pediatric patients with Nager acrofacial dysostosis...
- Orthodontic and surgical treatment of patients with congenital unilateral and bilateral mandibulofacial dysostosisCharlotte Opitz
Department of Orthodontics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany
J Orofac Orthop 65:150-63. 2004Presentation of results following therapy of patients with different forms of mandibulofacial dysostosis.
- Vertical mesenchymal distraction and bilateral free fibula transfer for severe Treacher Collins syndromeHumberto L Acosta
Joe DiMaggio Children s Hospital Cleft and Craniofacial Center, Hollywood, FL, USA
Plast Reconstr Surg 113:1209-17; discussion 1218. 2004
- The airway in patients with craniofacial abnormalitiesCharles Nargozian
Department of Anesthesiology, The Children s Hospital, Boston, MA 02115 5737, USA
Paediatr Anaesth 14:53-9. 2004..management include cleft lip and palate with or without Pierre Robin syndrome, craniofacial dysostosis, mandibulofacial dysostosis/Treacher Collins syndrome, hemifacial microsomia, Klippel-Feil syndrome, Beckwith-Wiedemann syndrome, ..
- Mandibular lengthening by distraction for airway obstruction in treacher-collins syndrome: the long-term resultsPeter J Anderson
Australian Craniofacial Unit, Women s and Children s Hospitals, University of Adelaide, South Australia, Australia
J Craniofac Surg 15:47-50. 2004..It is significant that the abnormal growth pattern of the mandible, which is characteristic of this syndrome, did not alter from its preoperative pattern once distraction was completed...
- Magnetic resonance imaging of the fetus: a study of 20 cases performed without curarizationM P Revel
Department of Radiology, A Beclere Hospital, Clamart, France
Prenat Diagn 13:775-99. 1993..Fetal MRI may be performed without curarization. Surface coils allow the detailed analysis of brain parenchyma, and thus MRI is especially useful in the difficult prenatal diagnosis of fetal brain abnormalities...
- Successes and failures with the laryngeal mask airway (LMA) in patients with Treacher Collins syndrome - a case seriesKoichi Takita
Can J Anaesth 50:969-70. 2003
- [SHG presents itself and the disease picture: Franceschetti syndrome]Björn Kabuss
Kinderkrankenschwester 21:280. 2002
- [Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome]Katsumi Horiuchi
Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
Hokkaido Igaku Zasshi 78:419-28. 2003
- Ultrasonographic prenatal diagnosis of Treacher Collins syndrome: a case reportPornpimol Ruangvutilert
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
J Med Assoc Thai 86:482-8. 2003..Her husband had stigmata of the syndrome. Ultrasonography revealed polyhydramnios, abnormal fetal ears and marked micrognathia. Abortion occurred spontaneously at 26 weeks of gestation. The abortus bore clinical features of the syndrome...
- Software for the creation and quality control of genome annotationsMARK DOUGLAS YANDELL; Fiscal Year: 2010....
- Craniofacial Development and DiseasePaul A Trainor; Fiscal Year: 2010....
- Regulation of Treacher Collins Syndrome TCOF1 geneKATHRYN SHOWS; Fiscal Year: 2007....
- Intrinsic and extrinsic regulation of cranial mesodermPaul Trainor; Fiscal Year: 2007....
- Osseous Abnormalities in Neurofibromatosis Type 1David Stevenson; Fiscal Year: 2007..abstract_text> ..
- Whole genome screen for novel regulators of tissue homeostasis and regenerationMARK DOUGLAS contact YANDELL; Fiscal Year: 2010....