eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Mandibulofacial Dysostosis (Treacher Collins Syndrome): Follow-up

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
Coauthor(s): Granger B Wong, MD, DMD, FACS, Assistant Professor of Surgery, Division of Plastic and Reconstructive Surgery, University of California Davis School of Medicine; Surendra Varma, MD, Vice-Chairman and Program Director, University Distinguished Professor, Department of Pediatrics, Texas Tech University School of Medicine
Contributor Information and Disclosures

Updated: Mar 12, 2007

Miscellaneous

Medicolegal Pitfalls

  • A child affected with Treacher Collins syndrome needs multidisciplinary care starting from birth and throughout most of his or her life. As in any multidisciplinary treatment that involves many specialists, one center or team must coordinate a treatment plan. Therefore, each child should always be referred to a craniofacial center or a multidisciplinary craniofacial team as soon as possible. The team will develop and present a treatment plan for the child to the family. If a child is not referred to such a center or team, existing or potential problems may be overlooked. All craniofacial centers in the country are staffed with or have the ability to consult with a specialist for each discipline that is involved in the care for a child with Treacher Collins syndrome. A geneticist should be involved from the beginning, and a careful genetic examination should involve all first-degree relatives in order to specify a risk of recurrence. The team should also have a neonatologist, a pediatrician, a craniofacial or plastic surgeon, an otorhinolaryngologist, an ophthalmologist, a pediatric dentist and orthodontist, a speech pathologist, and a psychologist.
  • A treatment plan should be presented to the family as early as possible and should include a timeline for each planned procedure, its benefits and risks, and its anticipated costs. Informed consent should be a part of every step of the treatment. If legal issues arise, a physician's defense must include detailed records of each discussion with the family, including all of the many potential risks and benefits.
 


More on Mandibulofacial Dysostosis (Treacher Collins Syndrome)

Overview: Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Differential Diagnoses & Workup: Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Treatment & Medication: Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Follow-up: Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Multimedia: Mandibulofacial Dysostosis (Treacher Collins Syndrome)
References
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References

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Further Reading

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Keywords

Treacher Collins syndrome, TCS, Treacher Collins-Franceschetti syndrome 1, Franceschetti-Zwahlen-Klein syndrome, dysostosis mandibulofacialis, mandibulofacial dysostosis, craniofacial growth, craniofacial structure growth, downward sloping facial features, neural crest cells, first branchial arch, second branchial arch, craniofacial skeleton, TCOF1 gene, Treacher Collins type autosomal recessive mandibulofacial dysostosis, acrofacial dysostosis, Goldenhar syndrome, oculoauriculovertebral spectrum, bilateral hypoplasia, mandibular retrognathia, distraction osteogenesis, tongue-lip adhesion

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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, Assistant 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 for Aesthetic Plastic 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, Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia
Elaine H Zackai, MD is a member of the following medical societies: American College of Medical Genetics, American College of Phlebology, 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.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Margaret McGovern, MD, PhD, Vice Chair, Professor, Department of Human Genetics, Mount Sinai School of Medicine
Margaret McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Nothing to disclose.

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: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pathology and Microbiology, Director, Hattie B Munroe Center for Human Genetics, Chairman, Department of Pediatrics, 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.

 
 
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