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Sagittal Craniosynostosis Associated with Chromosome Abnormalities with a Brief Review on Craniosynostosis

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Atlas of Genetic Diagnosis and Counseling

Abstract

Craniosynostosis, defined as the premature closure of >1 cranial suture with an estimated prevalence of 1 in 2,000–3,000 births (Cohen 2000), comprises a heterogeneous group of birth defects, including isolated forms and syndromic cases.

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References

  • Adamo, M. A., & Pollack, I. F. (2009). Current management of craniosynostosis. Neurosurgery Quarterly, 19, 82–87.

    Article  Google Scholar 

  • Agrawal, D., Steinbok, P., & Cochrane, D. D. (2006). Diagnosis of isolated sagittal synostosis: Are radiographic studies necessary? Child's Nervous System, 22, 375–378.

    Article  PubMed  Google Scholar 

  • Bergquist, C. S., Nauta, A. C., Selden, N. R., et al. (2016). Age at the time of surgery and maintenance of head size in nonsyndromic sagittal craniosynostosis. Plastic and Reconstructive Surgery, 137, 1557–1565.

    Article  CAS  PubMed  Google Scholar 

  • Brewer, C., Holloway, S., Zawalnyski, P., et al. (1998). A chromosome deletion map of human malformations. American Journal of Human Genetics, 63, 1153–1159.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Brewer, C., Holloway, S., Zawalnyski, P., et al. (1999). A chromosome duplication map of malformations: Regions of suspected haplo- and triplolethality – And tolerance of segmental aneuploidy in humans. American Journal of Human Genetics, 64, 1702–1708.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Butzelaar, L., Breugem, C. C., Hanlo, P., et al. (2009). Is isolated sagittal synostosis an isolated condition? The Journal of Craniofacial Surgery, 20, 399–401.

    Article  PubMed  Google Scholar 

  • Chatterjee, J. S., Mahmoud, M., Karthikeyan, S., et al. (2007). Referral pattern and surgical outcome of sagittal synostosis. International Journal of Surgical Reconstruction, 62, 211–215.

    Google Scholar 

  • Cohen, M. M. (2000). Craniofacial Disorders caused by mutations in homeobox genes MSX1 and MSX2. Journal of Craniofacial Genetics and Developmental Biology, 20, 19–25.

    CAS  PubMed  Google Scholar 

  • Cohen, M. M., Jr., & McLean, R. E. (2000). Craniosynostosis: Diagnosis, evaluation and management (2nd ed.). New York: Oxford University Press.

    Google Scholar 

  • David, L., Glazier, S., Pyle, J., et al. (2009). Classification system for sagittal craniosynostosis. Journal of Craniofacial Surgery, 20, 279–282.

    Article  PubMed  Google Scholar 

  • Fjortoft, M. I., Sevely, A., Boetto, S., et al. (2007). Prenatal diagnosis of craniosynostosis: Value of MRI imaging. Neuroradiology, 49, 515–521.

    Article  PubMed  Google Scholar 

  • Flück, C. E., Tajima, T., Pandey, A. V., et al. (2004). Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature Genetics, 36, 228–230.

    Article  PubMed  Google Scholar 

  • Gajecka, M., Yu, W., Ballif, B. C., et al. (2005). Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. European Journal of Human Genetics, 13, 139–149.

    Article  CAS  PubMed  Google Scholar 

  • Hennekam, R. C. M., & Van den Boogaard, M. J. (1990). Autosomal dominant craniosynostosis of the sutura metopica. Clinical Genetics, 38, 374–377.

    Article  CAS  PubMed  Google Scholar 

  • Hing, A. V., Click, E. S., Holder, U., et al. (2009). Bilateral lambdoid and sagittal synostosis (BLLS): A unique craniosynostosis syndrome or predictable craniofacial phenotype? American Journal of Medical Genetics. Part A, 149A, 1024–1032.

    Article  CAS  PubMed  Google Scholar 

  • Hiraki, Y., Fujita, H., Yamamori, S., et al. (2006). Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1). American Journal of Medical Genetics. Part A, 140A, 1773–1777.

    Article  Google Scholar 

  • Hiraki, Y., Moriuchi, M., Ikamoto, N., et al. (2008). Craniosynostosis in a patient with a de novo 15q15-q22 deletion. American Journal of Medical Genetics. Part A, 146A, 1462–1465.

    Article  PubMed  Google Scholar 

  • Jane, J. A., Edgerton, M. T., Futrell, J. W., et al. (1978). Immediate correction of sagittal synostosis. Journal of Neurosurgery, 49, 705.

    Article  CAS  PubMed  Google Scholar 

  • Jane, J. A., Lin, K. Y., & Jane, J. A., Sr. (2000). Sagittal synostosis. Neurosurgical Focus, 9, 1–6.

    Article  Google Scholar 

  • Jehee, F. S., Bertola, D. R., Yalavarthi, K. K., et al. (2007). An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. American Journal of Medical Genetics. Part A, 143A, 1912–1918.

    Article  PubMed  Google Scholar 

  • Jehee, F. S., Krepischi-Santos, A. C. V., Rocha, K. M., et al. (2008). High frequency of submicroscopic imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridization. Journal of Medical Genetics, 45, 447–450.

    Article  CAS  PubMed  Google Scholar 

  • Jimenez, D. F., Savage, J. G., & Barone, C. M. (2008). Surgical management of craniosynostosis. Sagittal suture: Part II. Contemporary Neurosurgery, 30, 1–8.

    Google Scholar 

  • Johnson, D., Wall, S. A., Mann, S., et al. (2000). A novel mutation, Ala315Ser, in FGFR2: A gene-environment interaction leading to craniosynostosis? European Journal of Human Genetics, 8, 571–577.

    Article  CAS  PubMed  Google Scholar 

  • Kimonis, V., Gold, J.-A., & Hoffman, T. L. (2007). Genetics of craniosynostosis. Seminars in Pediatric Neurology, 14, 150–161.

    Article  PubMed  Google Scholar 

  • Kirschner, R. E., Gannon, F. H., Xu, J., et al. (2002). Craniosynostosis and altered patterns of fetal TGF-beta expression induced by intrauterine constraint. Plastic and Reconstructive Surgery, 109, 2338–2346.

    Article  PubMed  Google Scholar 

  • Lajeunie, E., Le Merrer, M., Bonaiti-Pellie, C., et al. (1996). Genetic study of scaphocephaly. American Journal of Medical Genetics, 62, 282–285.

    Article  CAS  PubMed  Google Scholar 

  • Lajeunie, E., Le Merrer, M., Marchac, D., et al. (1998). Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients. American Journal of Medical Genetics, 2, 211–215.

    Article  Google Scholar 

  • Lajeunie, E., Crimmins, D. W., Arnaud, E., et al. (2005). Genetic considerations in nonsyndromic midline craniosynostosis: A study of twins and their families. Journal of Neurosurgery, 103(4 Suppl), 353–356.

    PubMed  Google Scholar 

  • Lattanzi, W., Bukvic, N., Barba, M., et al. (2012). Genetic basis of single-suture synostoses: Genes, chromosomes and clinical implications. Childs Nervous System, 28, 1301–1310.

    Article  Google Scholar 

  • Loeys, B. L., Chen, J., Neptune, E. R., et al. (2005). A syndrome of altered cardiovascular, craniofacial, neurocongnitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics, 37, 275–281.

    Article  CAS  PubMed  Google Scholar 

  • Lyon, S. M., Waggoner, D., Halbach, S., et al. (2015). Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2. Genes & Diseases, 2, 347–352.

    Article  CAS  Google Scholar 

  • McDonald-McGinn, D. M., Gripp, K. W., Kirschner, R. E., et al. (2005). Craniosynostosis: Another feature of the 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A, 136A, 358–362.

    Article  PubMed  Google Scholar 

  • Merrill, A. E., Bochukova, E. G., Bruggar, S. M., et al. (2006). Cell mixing at a neural crest-mesoderm boundary and deficient Ephrin-Eph signaling in the pathogenesis of craniosynostosis. Human Molecular Genetics, 15, 1319–1328.

    Article  CAS  PubMed  Google Scholar 

  • Passos-Bueno, M. R., Sertie, A. L., Jehee, F. S., et al. (2008). Genetics of craniosynostosis: Genes, syndromes, mutations and genotype-phenotype correlations. Frontiers of Oral Biology, 12, 107–143.

    Article  PubMed  Google Scholar 

  • Shiihara, T., Kato, M., Kimura, T., et al. (2004). Craniosynostosis with extra copy of MSX2 in a patient with partial 5qtrisomy. American Journal of Medical Genetics. Part A, 128A, 214–216.

    Article  PubMed  Google Scholar 

  • Sood, S., Eldahdah, Z. A., Krause, W. L., et al. (1996). Mutations in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genetics, 12, 209–211.

    Article  CAS  PubMed  Google Scholar 

  • Tagariello, A., Heller, R., Greven, A., et al. (2006). Balanced translocation in a patient with craniosynostosis disrupts theSOX6gene and an evolutionarily conserved non-transcribed region. Journal of Medical Genetics, 43, 534–540.

    Article  CAS  PubMed  Google Scholar 

  • Wilkie, A. O. M., Bochukova, E. G., Hansen, R. M. S., et al. (2007). Clinical dividends from the molecular genetic diagnosis of craniosynostosis. American Journal of Medical Genetics. Part A, 143A, 1941–1949.

    Article  PubMed  Google Scholar 

  • Wilkie, A. O. M., Byren, J. C., Hurst, J. A., et al. (2010). Prevalence and complications of single gene and chromosomal disorders in craniosynostosis. Pediatrics, 126, e391–e400.

    Article  PubMed  PubMed Central  Google Scholar 

  • Zeiger, J. S., Beaty, T. H., Hetmanski, J. B., et al. (2002). Genetic and environmental risk factors for sagittal craniosynostosis. Journal of Craniofacial Surgery, 13, 602–606.

    Article  PubMed  Google Scholar 

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Chen, H. (2017). Sagittal Craniosynostosis Associated with Chromosome Abnormalities with a Brief Review on Craniosynostosis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_209

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_209

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

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