Mandibulofacial Dysostosis (Treacher Collins Syndrome): Multimedia

References

1. Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the head and neck, 4th ed. Oxford University Press. 2001.

2. Rovin S et al. Mandibulofacial dysostosis: A familial study of five generations. J Pediatrics. 1964;65:215-221.

3. Marres HA, Cremers CW, Dixon MJ, et al. The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg. May 1995;121(5):509-14. [Medline].

4. Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. J Oral Maxilofac Surg. 1997;55:1120-33.

5. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline].

6. Poswillo D. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br J Oral Surg. Jul 1975;13(1):1-26. [Medline].

7. Sulik KK, Johnston MC, Smiley SJ, et al. Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. Am J Med Genet. Jun 1987;27(2):359-72. [Medline].

8. Wiley MJ, Cauwenbergs P, Taylor IM. Effects of retinoic acid on the development of the facial skeleton in hamsters: early changes involving cranial neural crest cells. Acta Anat (Basel). 1983;116(2):180-92. [Medline].

9. The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet. Feb 1996;12(2):130-6. [Medline].

10. Wise CA, Chiang LC, Paznekas WA, et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A. Apr 1 1997;94(7):3110-5. [Medline]. [Full Text].

11. Dixon, M. J. Treacher Collins syndrome. Hum. Molec. Genet. 1996;1391-1396.

12. Edwards, S. J, Gladwin, A. J, Dixon, M. J. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am. J. Hum. Genet. 1997.;60:515-524.

13. Horiuchi, K, Ariga, T, Fujioka, H. Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. Am. J. Med. Genet. 2004;128A:173-175.

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15. Richieri-Costa A, Bortolozo MA, Lauris JR, et al. Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance. Am J Med Genet. Jul 1 1993;46(6):659-64. [Medline].

16. Splendore A, Silva EO, Alonso LG, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. Oct 2000;16(4):315-22. [Medline].

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23. Franceschetti A, Klein D. Mandibulo-facial dysostosis: New hereditary syndrome. Acta Ophthalmol (Kbh). 1949;27:143-224.

24. Moore MH, Guzman-Stein G, Proudman TW, et al. Mandibular lengthening by distraction for airway obstruction in Treacher-Collins syndrome. J Craniofac Surg. Feb 1994;5(1):22-5. [Medline].

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26. Williams JK, Maull D, Grayson BH, et al. Early decannulation with bilateral mandibular distraction for tracheostomy-dependent patients. Plast Reconstr Surg. Jan 1999;103(1):48-57; discussion 58-9. [Medline].

Further Reading

Keywords

Treacher Collins syndrome, TCS, Treacher Collins-Franceschetti syndrome 1, Franceschetti-Zwahlen-Klein syndrome, dysostosis mandibulofacialis, mandibulofacial dysostosis, craniofacial growth, craniofacial structure growth, treatment, diagnosis, symptoms

Contributor Information and Disclosures

Author

Marie M Tolarova, MD, PhD, DSc, Professor and Executive Director, UOP Craniofacial Team, Cleft Prevention Program, Department of Orthodontics, University of the Pacific School of Dentistry
Marie M Tolarova, MD, PhD, DSc is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American Society of Human Genetics, and International Association for Dental Research
Disclosure: Nothing to disclose.

Coauthor(s)

Granger B Wong, MD, DMD, FACS, Associate Professor of Surgery, Division of Plastic and Reconstructive Surgery, University of California Davis School of Medicine
Granger B Wong, MD, DMD, FACS is a member of the following medical societies: American Society of Plastic and Reconstructive Surgery
Disclosure: Nothing to disclose.

Surendra Varma, MD, Vice-Chairman and Program Director, University Distinguished Professor, Department of Pediatrics, Texas Tech University School of Medicine
Surendra Varma, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Medical Association, American Thyroid Association, Endocrine Society, Medical Group Management Association, New York Academy of Sciences, Sigma Xi, Society for Pediatric Radiology, Southern Society for Pediatric Research, and Texas Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Elaine H Zackai, MD, Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia
Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American College of Medical Genetics, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Genzyme Grant/research funds PI

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.