Further Outpatient Care

Carefully monitor postoperative complications.

Further Inpatient Care

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

Transfer

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

Complications

Complications can include the following:

Wound infections, frontal bone osteomyelitis, epidural 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

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Media Gallery

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

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Table 1. Skeletal features that help to distinguish craniosynostosis syndromes*

Disorder	Thumbs	Hands	Great Toes	Feet	Targets for genetic testing
Crouzon syndrome	Normal	Normal	Normal	Normal	FGFR2
Crouzon syndrome with acanthosis nigricans	Normal	Normal	Normal	Normal	FGFR3
Apert syndrome	Fusion of thumb to fingers is occasionally seen	Soft tissue with or without bone syndactyly	Fusion of great toe to other toes is occasionally seen	Soft tissue with or without bone syndactyly	FGFR2
Pfeiffer syndrome	Broad, medially deviated	Variable brachydactyly	Broad, medially deviated	Variable brachydactyly	FGFR1, FGFR2
Muenke syndrome	Normal	With or without carpal fusion	May or may not be broad	Tarsal fusion may or may not be present	FGFR3
Jackson-Weiss syndrome	Normal	Variable	Broad, medially deviated	Abnormal tarsals	FGFR2
Beare-Stevenson syndrome	Normal	Normal	Normal	Normal	FGFR2

Table 2. Efficiency (mutation detection rate) of molecular testing*

Syndrome	Gene	Mutation Detection Rate
Pfeiffer	FGFR1,FGFR2	67%
Apert	FGFR2	>98%
Crouzon	FGFR2	>50%
Crouzonodermoskeletal	FGFR3	100%
Muenke	FGFR3	100%
Saethre-Chotzen	TWIST1	46-80%

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Author

Marie M Tolarova, MD, PhD, DSc Professor and Executive Director Pacific Craniofacial Team and Cleft Prevention Program, University of the Pacific, Dugoni School of Dentistry

Marie M Tolarova, MD, PhD, DSc is a member of the following medical societies: American Cleft Palate-Craniofacial Association, International Association for Dental Research, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

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, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, 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 and Genomics, American Medical Association, American Society of Human Genetics

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, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Genetics of Crouzon Syndrome Follow-up

Further Outpatient Care

Further Inpatient Care

Transfer

Complications

References

Tables

Contributor Information and Disclosures

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