Craniosynostosis syndromes have wide phenotypic variability. Understanding of the
underlying genetic causes continues to develop.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.
Content published before 2002 is available via pay-per-view purchase only.
Subscribe:
Subscribe to Atlas of the Oral and Maxillofacial Surgery Clinics of North AmericaAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Genetics of craniosynostosis.Semin Pediatr Neurol. 2007; 14: 150
- FGFR-related craniosynostosis syndromes.in: Pagon R.A. Adam M.P. Bird T.D. GeneReviews™ [Internet]. University of Washington, Seattle (WA)1998: 1993-2013 (Updated 2011 Jun 7. Available at:) (Accessed December 22, 2013)
- Craniofacial syndromes and surgery.Plast Reconstr Surg. 2012; 131: 86e
- Craniosynostoses: phenotypic/molecular correlations.Am J Med Genet. 1995; 56: 334
- The craniofacial dysostosis syndromes: current surgical thinking and future directions.Cleft Palate Craniofac J. 2000; 37: 433
- Gorlin’s syndromes of the head and neck.5th edition. Oxford University Press, New York2010: 732-791
- Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.Am J Med Genet C Semin Med Genet. 2013; 163C: 259
- Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in “lost” descendants of the original kindred.Am J Med Genet. 2001; 100: 315
- Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies.J Anat. 2005; 207: 637
- Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods.Clin Genet. 1992; 41: 12
- The natural history and pathogenesis of the cranial coronal ring articulations: implications in understanding the pathogenesis of the Crouzon craniostenotic defects.Cleft Palate J. 1986; 23: 28
- Comparative three-dimensional analysis of CT-scans of the calavaria and cranial base in Apert and Crouzon syndromes.J Craniomaxillofac Surg. 1993; 21: 181
- Is craniofacial morphology in Apert and Crouzon syndromes the same?.Acta Odontol Scand. 1998; 56: 339
- Ocular manifestations of Apert and Crouzon syndromes: Qualitative and quantitative findings.J Craniofac Surg. 2010; 21: 1354
- A clinical study of the craniofacial features in Apert syndrome.Int J Oral Maxillofac Surg. 1996; 25: 45
- Hydrocephalus in craniosynostosis: a review.Childs Nerv Syst. 2005; 21: 902
- Hydrocephalus and craniosynostosis.J Neurosurg. 1998; 88: 209
- Hearing and otopathology in Crouzon syndrome.Laryngoscope. 1999; 109: 1372
- Noncraniofacial manifestations of Crouzon’s disease.J Craniofac Surg. 1994; 5: 218
- Cervical spine anomalies in the craniosynostosis syndromes.Cleft Palate J. 1987; 24: 328
- The cervical spine in Crouzon syndrome.Spine. 1997; 22: 402
- The elbow in syndromic craniosynostosis.J Craniofac Surg. 1998; 9: 201
- Metacarpophalangeal analysis in Crouzon syndrome: additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes.Am J Med Genet. 1997; 73: 61
- Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.Clin Genet. 2000; 57: 137
- Birth prevalence, mutation rate, sex ratio, parents’ age, and ethnicity in Apert syndrome.Am J Med Genet. 1997; 72: 394
- Birth prevalence study of the Apert syndrome.Am J Med Genet. 1992; 42: 655
- Growth pattern in the Apert syndrome.Am J Med Genet. 1993; 47: 617
- Anatomy and significance of the temporal fat pad in Apert syndrome.Cleft Palate Craniofac J. 1994; 31: 224
- Ophthalmic findings in Apert syndrome prior to craniofacial surgery.Am J Ophthalmol. 2006; 142: 328
- Prevalence and causes of visual impairment in craniosynostosis syndromes.Clin Experiment Ophthalmol. 2006; 34: 434
- Craniofacial disproportions in Apert syndrome: an anthropometric study.Cleft Palate J. 1985; 22: 253
- Apert syndrome and palatal mucopolysaccharides.Teratology. 1971; 8: 287
- Palatal anomalies in the syndromes of Apert and Crouzon.Cleft Palate J. 1974; 11: 394
- Intraoral features of Apert’s syndrome.Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007; 103: e38
- The oral manifestations of Apert syndrome.J Craniofac Genet Dev Biol. 1992; 12: 41
- Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.Am J Med Genet. 2006; 140A: 1337
- Hearing and otopathology in Apert syndrome.Arch Otolaryngol. 1982; 108: 347
- Audiological profile in Apert syndrome.Arch Dis Child. 2005; 90: 592
- Hands and feet in the Apert syndrome.Am J Med Genet. 1995; 57: 82
- Visceral anomalies in the Apert syndrome.Am J Med Genet. 1993; 45: 758
- Oculocutaneous albinism associated with Apert’s syndrome.Am J Ophthalmol. 1977; 84: 830
- Letter to the editor: cutaneous manifestations of Apert syndrome.Am J Med Genet. 1995; 58: 94
- Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.Am J Med Genet. 1993; 45: 300
- Pfeiffer syndrome.Orphanet J Rare Dis. 2006; 1: 19
- Pfeiffer syndrome: analysis of a clinical series and development of a classification syndrome.J Craniofac Surg. 2013; 24: 204
- Type 3 Pfeiffer syndrome with normal thumbs.Am J Med Genet. 1996; 66: 138
- An etiologic and nosologic overview of craniosynostosis syndromes.Birth Defects Orig Artic Ser. 1975; 11: 137
- Pfeiffer syndrome: a treatment evaluation.Plast Reconstr Surg. 2009; 123: 1560
- Spinal anomalies in Pfeiffer syndrome.Cleft Palate Craniofac J. 1995; 32: 251
- Cervical spine in Pfeiffer’s syndrome.J Craniofac Surg. 1996; 7: 275
- A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.Am J Hum Genet. 1997; 60: 555
- Muenke syndrome.in: Pagon R.A. Adam M.P. Bird T.D. GeneReviews™ [Internet]. University of Washington, Seattle (WA)2006: 1993-2013 (Updated 2010 Dec 7. Available at:) (Accessed December 22, 2013)
- Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.Am J Med Genet A. 2007; 143A: 3204
- FGFR3 P250R mutation increases the risk of reoperation in apparent nonsyndromic coronal craniosynostosis.J Craniofac Surg. 2005; 16: 347
- The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation.Pediatr Radiol. 2003; 33: 168
- Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.J Craniofac Surg. 2004; 15: 670
- Sleep-related disordered breathing in children with syndromic craniosynostosis.J Craniomaxillofac Surg. 2011; 39: 153
- How does obstructive sleep apnoea evolve in syndromic craniosynostosis? A prospective cohort study.Arch Dis Child. 2013; 98: 538
- Intracranial pressure monitoring in children with single suture and complex craniosynostosis: a review.Childs Nerv Syst. 2005; 21: 913
- Craniofacial skeletal measurements based on computed tomography: part II. Normal values and growth trends.Cleft Palate Craniofac J. 1992; 29: 118
Further readings
- Craniofacial syndromes and surgery.Plast Reconstr Surg. 2012; 131: 86e
- Gorlin’s syndromes of the head and neck.5th edition. Oxford University Press, New York2010: 732-791
- Parameters of care for craniosynostosis.Cleft Palate Craniofac J. 2012; 49: 1S
- The craniofacial dysostosis syndromes: current surgical thinking and future directions.Cleft Palate Craniofac J. 2000; 37: 433
- FGFR-related craniosynostosis syndromes.in: Pagon R.A. Adam M.P. Bird T.D. GeneReviews™ [Internet]. University of Washington, Seattle (WA)1998: 1993-2013 (Updated 2011 Jun 7. Available at:) (Accessed December 22, 2013)
Article info
Footnotes
The authors have nothing to disclose.
Identification
Copyright
© 2014 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
