eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Crouzon Syndrome: Follow-up

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
Contributor Information and Disclosures

Updated: Sep 10, 2009

Follow-up

Further Inpatient Care

  • Admit the patient with Crouzon syndrome for surgical intervention.
  • Tracheostomy may be needed for airway management.

Further Outpatient Care

  • Carefully monitor postoperative complications.

Transfer

  • Transfer may be indicated for further diagnostic evaluation and surgical intervention.

Complications

  • Wound infections, frontal bone osteomyelitis, extradural abscess, and periorbital abscess
  • Increased intracranial pressure and postoperative hydrocephalus
  • Cerebrospinal fluid (CSF) leak
  • Respiratory distress and obstructive sleep apnea
  • Facial nerve palsy, blindness, diplopia, and velopharyngeal incompetence
  • Optic atrophy remains an important cause of visual impairment before decompressive craniectomy.

Prognosis

  • Prognosis depends on malformation severity.
    • Craniosynostosis can result in brain compression and mental retardation in severely affected individuals unless relieved by early craniectomy.
    • Innovations in craniofacial surgery have enabled patients to achieve their full potential by maximizing their opportunities for intellectual growth, physical competence, and social acceptance.
  • Patients usually have a normal lifespan.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Failure to perform an early craniectomy
  • Failure to provide adequate genetic counseling
  • Failure to recognize premature closure of sutures early in life

Special Concerns

  • Genetic counseling should include discussion of the following:14,15
    • The risk that an affected individual will have affected offspring is 50%.
    • The recurrence risk for unaffected parents is negligible except in the case of germinal mosaicism. The risk for future siblings depends on the proportion of germ cells bearing the mutant allele.
    • An advanced paternal age effect in new mutations has been reported.
  • Prenatal diagnosis16
    • Identification of the disease-causing FGFR2 mutation allows prenatal diagnosis using chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second trimester.17
    • Exophthalmos and ocular hypertelorism can be detected by ultrasonography. Prenatal diagnosis of craniosynostosis is difficult and could benefit from 3-dimensional ultrasonography and 3-demensional CT scanning.
    • Prenatal MRI has diagnostic value when synostosis is suspected based on ultrasonography findings. MRI is accurate in detection of associated brain abnormalities, which is an important prognostic issue in this disease.
    • Preimplantation genetic diagnosis for Crouzon syndrome by blastomere biopsy samples from cleavage-stage embryos may be detected by mutation analysis.
 


More on Crouzon Syndrome

Overview: Crouzon Syndrome
Differential Diagnoses & Workup: Crouzon Syndrome
Treatment & Medication: Crouzon Syndrome
Follow-up: Crouzon Syndrome
Multimedia: Crouzon Syndrome
References
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References

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Further Reading

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Keywords

acrocephalosyndactyly type II, craniofacial dysostosis, craniostenosis Crouzon type, Crouzon craniofacial dysostosis, calvarial deformities, facial anomalies, exophthalmos, craniosynostosis, Crouzon syndrome, Crouzon's syndrome, hypertelorism, exophthalmos, strabismus, beaked nose, short upper lip, hypoplastic maxilla, mandibular prognathism, fibroblast growth factor receptor-2, FGFR2 gene, FGFR3 gene, FGFR1 gene, upper airway obstruction, respiratory distress, septal deviation, conductive deafness, Ménière disease

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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 Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

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: Radiation Research Society
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

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.

CME Editor

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 of Genetics, Munroe Meyer Institute, Professor, Department of Pediatrics, Pathology and Microbiology, 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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