Book contents
- Frontmatter
- Contents
- Preface
- Glossary of genetic and molecular terms
- Part I Approach to the child with special needs
- Part II The management of selected single congenital anomalies and associations
- Part III Chromosomal syndromes
- Part IV Syndromes remarkable for altered growth
- Part V Management of craniofacial syndromes
- 14 Craniosynostosis syndromes
- 15 Branchial arch and face/limb syndromes
- Part VI Management of connective tissue and integumentary syndromes
- Part VII The management of neurologic and neurodegenerative syndromes
- Part VIII Management of neurodegenerative metabolic disorders
- References
- Index
14 - Craniosynostosis syndromes
Published online by Cambridge University Press: 29 January 2010
- Frontmatter
- Contents
- Preface
- Glossary of genetic and molecular terms
- Part I Approach to the child with special needs
- Part II The management of selected single congenital anomalies and associations
- Part III Chromosomal syndromes
- Part IV Syndromes remarkable for altered growth
- Part V Management of craniofacial syndromes
- 14 Craniosynostosis syndromes
- 15 Branchial arch and face/limb syndromes
- Part VI Management of connective tissue and integumentary syndromes
- Part VII The management of neurologic and neurodegenerative syndromes
- Part VIII Management of neurodegenerative metabolic disorders
- References
- Index
Summary
Premature fusion of the cranial sutures occurs as a single anomaly or as a primary event in more than 90 craniosynostosis syndromes (Jones, 1997, pp. 412–30; Gorlin et al., 2001, pp. 654–704). Craniosynostosis also occurs as a secondary or occasional event in conditions such as rickets or thalassemia, resulting in an aggregate frequency of 0.4–0.6 per 1000 births. Preventive care is particularly important in the craniosynostosis syndromes, since altered cranial growth can have a severe impact on cognitive, visual, and auditory functions. Patients with fused cranial sutures share many problems with impact on surgical and preventive management regardless of their specific syndrome diagnosis. For this reason, a common craniosynostosis checklist is provided in this chapter that can be used for the Saethre–Chotzen, Apert, Crouzon, Pfeiffer, and Carpenter syndromes. The craniosynostosis checklist can also be used for less common disorders if their unique features are added to the appropriate places on the checklist.
Patients with significant cranial asymmetry (plagiocephaly) and suspected synostosis should be promptly referred to a craniofacial surgery team, since early treatment may avoid the need for surgery or prevent severe complications. Substantial experience with craniofacial surgery has defined team approaches, defined standards (American Cleft Palate-Craniofacial Association, 1993) and resolved complications (Goodrich, 2004); the remarkable ability to normalize facial structure in children with anomalies must rank with the greatest achievements in medicine.
Of recent interest is the influence of local imbalance of skull growth surrounding the fused suture rather than overall constriction of cranial volume (craniostenosis) due to craniosynostosis (Sgouros, 2005).
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- Information
- Preventive Health Care for Children with Genetic ConditionsProviding a Primary Care Medical Home, pp. 375 - 387Publisher: Cambridge University PressPrint publication year: 2006