Genetics of Crouzon Syndrome Treatment & Management

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 11, 2011
 

Medical Care

  • A high prevalence of visual impairment in patients with craniosynostotic syndromes such as Crouzon syndrome was reported; almost half of the cases were due to potentially correctable causes, including amblyopia and ametropia.[13] Optic atrophy remains an important cause of visual impairment.
  • Early detection of eye problems to reduce amblyopia by correction of refractory errors and timely treatment of strabismus and patching is indicated. Optic atrophy remains an important cause of visual impairment before decompressive craniectomy.[14]
  • To relieve airway obstruction, a nasal continuous positive airway pressure device may be needed.
  • Close otologic and audiologic follow-up is indicated to detect sensorineural hearing loss.
  • Management of speech may be necessary.
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Surgical Care

  • The goal is to stage reconstruction to coincide with facial growth patterns, visceral function, and psychosocial development.
  • Surgical treatment varies according to the variable expressivity of the disease and usually begins during a child’s first year with fronto-orbital advancement with cranial decompression. Subsequent development of midfacial hypoplasia needs correction. Procedures for this purpose include the Le Fort III osteotomy or its segmental variants, monobloc frontofacial advancement, or bipartition osteotomy.[15]
  • Early craniectomy with frontal bone advancement is most often indicated to prevent or treat increased intracranial pressure because newborns with Crouzon syndrome develop multiple suture synostoses and fused synchondroses.
  • Fronto-orbital and midfacial advancements help in the cosmetic reconstruction of facial dysmorphisms.
  • A new technique, craniofacial disjunction, followed by gradual bone distraction (Ilizarov procedure) has been reported to produce complete correction of exophthalmos and improvement in the functional and aesthetic aspects of the middle third of the face without the need for bone graft in patients aged 6-11 years.
  • Adult Crouzon syndrome, often presenting with marked midface hypoplasia and exorbitism, can be corrected by orbital decompression and zygomaticomaxillary advancement.[15]
  • The following treatments may be necessary:
    • Shunting procedures for hydrocephalus
    • Tracheostomy for airway compromise
    • Myringotomy to drain middle ear secretions secondary to distorted nasopharynx
    • Orthodontic management
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Consultations

  • Neurosurgeon
  • Neuroradiologist
  • Plastic surgeon
  • Oromaxillofacial surgeon
  • Craniofacial anesthesiologist
  • Orthodontist
  • Dentist
  • Orthopedist
  • Ophthalmologist
  • Clinical geneticist
  • Speech, physical, and occupational therapists
  • Psychosocial team
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Diet

  • No special diet is required.
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Activity

  • Restriction of activity is not necessary.
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Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael Fasullo, PhD  Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: American Society for Biochemistry and Molecular Biology, Environmental Mutagen Society, Genetics Society of America, and Radiation Research Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, 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.

References

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Child with Crouzon syndrome. Note midfacial hypoplasia, proptosis secondary to shallow orbits, and ocular hypertelorism.
 
 
 
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