Genetics of Crouzon Syndrome Treatment & Management

Updated: Dec 05, 2018
  • Author: Marie M Tolarova, MD, PhD, DSc; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

Treatment of patients with Crouzon syndrome requires interdisciplinary and multidisciplinary care and management and should be performed and coordinated in craniofacial centers that have ample experience with syndromic craniosynostoses. The correct and timely diagnosis of each symptom, as well as the timing of each procedure, is critical for preventing further problems, sequelae, and complications. The experienced craniofacial team will develop a treatment plan that will be adjusted as needed during the course of treatment.

Treatment considerations include the following:

  • A high prevalence of visual impairment in patients with craniosynostotic syndromes, such as Crouzon syndrome, has been reported; almost a half of the cases had potentially correctable causes, including amblyopia and ametropia [41]  
  • Early detection of eye problems to reduce amblyopia by correction of refractory errors and timely treatment of strabismus and patching are indicated; optic atrophy remains an important cause of visual impairment before cranial decompression [42]
  • 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 of surgery 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. It 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. [43]

Early decompressive 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 dysmorphic features.

The craniofacial disjunction procedure, 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. [43]

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

A multidisciplinary team of specialists, including the following, is needed to coordinate the care of patients affected by Crouzon syndrome:

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

Appropriate diet is required after oromaxillofacial surgeries and during orthodontic treatment.

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Activity

Appropriate restriction of activities is required only after cranial and oromaxillofacial surgeries.

 

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