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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Synostosis

 
 
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Disease relevance of Synostosis

 

Psychiatry related information on Synostosis

  • OBJECTIVE: This study examined the global intellectual development and presence/absence of learning disorders in children with nonsyndromic metopic, sagittal, and unilateral coronal synostosis who had early surgery (under 1 year of age), late surgery (over 1 year of age), or no surgery to correct the synostosis across three time periods [6].
 

High impact information on Synostosis

 

Chemical compound and disease context of Synostosis

  • Therefore, this mutation should be tested for in patients with coronal synostosis [10].
  • CONCLUSIONS: Early pan-calvarial sutural synostosis in the perinatal rat after administration of methyl 2-cyanoacrylate is associated with morphometrical and cytoarchitectural changes in the developing brain [11].
  • In children born with fetal valproate syndrome, it is important to be aware of the possibility of metopic suture synostosis, which we believe should be considered part of the syndrome, because early surgical intervention may improve cognitive outcome [12].
  • We report on a sporadic case of spondylocarpotarsal synostosis in a 5-year-old girl with hypoplasia of C1 and odontoid and subluxation of C2 upon C3 [13].
 

Biological context of Synostosis

 

Anatomical context of Synostosis

 

Gene context of Synostosis

  • It is recognized that FGFR and TWIST mutations can give rise to either bilateral or unilateral coronal synostosis, even in the same family [24].
  • In 2 patients with isolated metopic/sagittal synostosis, FGFR2 and FGFR3 mutations were studied and none were detected [25].
  • Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome [26].
  • TGF-beta3 immunoreactivity was associated with the dura underlying patent, nonconstrained sutures, whereas constraint-induced synostosis was characterized by down-regulation of dural TGF-beta3 expression [27].
  • The endocranial area of the nasopremaxillary suture showed synostosis in 30-day-old op/op mice [28].
 

Analytical, diagnostic and therapeutic context of Synostosis

References

  1. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. Hajihosseini, M.K., Wilson, S., De Moerlooze, L., Dickson, C. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  2. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Kress, W., Schropp, C., Lieb, G., Petersen, B., Büsse-Ratzka, M., Kunz, J., Reinhart, E., Schäfer, W.D., Sold, J., Hoppe, F., Pahnke, J., Trusen, A., Sörensen, N., Krauss, J., Collmann, H. Eur. J. Hum. Genet. (2006) [Pubmed]
  3. Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infant. Pfeiffer, R.A., Rinnert, S., Popp, R., Röckelein, G. Am. J. Med. Genet. (1996) [Pubmed]
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  6. Mental development and learning disorders in children with single suture craniosynostosis. Kapp-Simon, K.A. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. (1998) [Pubmed]
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  10. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Muenke, M., Gripp, K.W., McDonald-McGinn, D.M., Gaudenz, K., Whitaker, L.A., Bartlett, S.P., Markowitz, R.I., Robin, N.H., Nwokoro, N., Mulvihill, J.J., Losken, H.W., Mulliken, J.B., Guttmacher, A.E., Wilroy, R.S., Clarke, L.A., Hollway, G., Adès, L.C., Haan, E.A., Mulley, J.C., Cohen, M.M., Bellus, G.A., Francomano, C.A., Moloney, D.M., Wall, S.A., Wilkie, A.O. Am. J. Hum. Genet. (1997) [Pubmed]
  11. A morphometric, neuroanatomical, and behavioral study on the effects of geometric constraint on the growing brain: the methyl 2-cyanoacrylate craniosynostosis model. Lam, C.H., Sethi, K.A., Low, W.C. J. Neurosurg. (2005) [Pubmed]
  12. Craniosynostosis and fetal exposure to sodium valproate. Lajeunie, E., Barcik, U., Thorne, J.A., El Ghouzzi, V., Bourgeois, M., Renier, D. J. Neurosurg. (2001) [Pubmed]
  13. Spondylocarpotarsal synostosis syndrome and cervical instability. Seaver, L.H., Boyd, E. Am. J. Med. Genet. (2000) [Pubmed]
  14. Subtotal neonatal calvariectomy for severe craniosynostosis. Hanson, J.W., Sayers, M.P., Knopp, L.M., Macdonald, C., Smith, D.W. J. Pediatr. (1977) [Pubmed]
  15. Occipital remodeling and suboccipital decompression in severe craniosynostosis associated with tonsillar herniation. Cinalli, G., Chumas, P., Arnaud, E., Sainte-Rose, C., Renier, D. Neurosurgery (1998) [Pubmed]
  16. Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis. Edwards, M.J., Rowe, L., Petroff, V. Am. J. Med. Genet. (2000) [Pubmed]
  17. A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia. Fujisawa, H., Hasegawa, M., Kida, S., Yamashita, J. J. Neurosurg. (2002) [Pubmed]
  18. Increased risk of craniosynostosis with higher antenatal maternal altitude. Alderman, B.W., Zamudio, S., Barón, A.E., Joshua, S.C., Fernbach, S.K., Greene, C., Mangione, E.J. International journal of epidemiology. (1995) [Pubmed]
  19. Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis. Ventruto, V., Di Girlamo, R., Festa, B., Romano, A., Sebastio, G., Sebastio, L. J. Med. Genet. (1976) [Pubmed]
  20. Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. Gripp, K.W., McDonald-McGinn, D.M., Gaudenz, K., Whitaker, L.A., Bartlett, S.P., Glat, P.M., Cassileth, L.B., Mayro, R., Zackai, E.H., Muenke, M. J. Pediatr. (1998) [Pubmed]
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  22. Alternative techniques in the treatment of unilateral coronal synostosis. Jane, J.A., Park, T.S., Zide, B.M., Lambruschi, P., Persing, J.A., Edgerton, M.T. J. Neurosurg. (1984) [Pubmed]
  23. Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5: a previously apparently undescribed MCA/MR syndrome. Pfeiffer, R.A., Kapferer, L. Am. J. Med. Genet. (1988) [Pubmed]
  24. Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Mulliken, J.B., Gripp, K.W., Stolle, C.A., Steinberger, D., Müller, U. Plast. Reconstr. Surg. (2004) [Pubmed]
  25. Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Azimi, C., Kennedy, S.J., Chitayat, D., Chakraborty, P., Clarke, J.T., Forrest, C., Teebi, A.S. Am. J. Med. Genet. A (2003) [Pubmed]
  26. Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. Takahashi, T., Takahashi, I., Komatsu, M., Sawaishi, Y., Higashi, K., Nishimura, G., Saito, H., Takada, G. Clin. Genet. (2001) [Pubmed]
  27. Craniosynostosis and altered patterns of fetal TGF-beta expression induced by intrauterine constraint. Kirschner, R.E., Gannon, F.H., Xu, J., Wang, J., Karmacharya, J., Bartlett, S.P., Whitaker, L.A. Plast. Reconstr. Surg. (2002) [Pubmed]
  28. Morphological change of the nasopremaxillary suture in growing "toothless" osteopetrotic (op/op) mice. Kawata, T., Tokimasa, C., Fujita, T., Kaku, M., Kawasoko, S., Sugiyama, H., Ozawa, S., Tanne, K. J. Craniofac. Genet. Dev. Biol. (1999) [Pubmed]
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  30. Osseous expansion of the cranial vault by craniotasis. Remmler, D., McCoy, F.J., O'Neil, D., Willoughby, L., Patterson, B., Gerald, K., Morris, D.C. Plast. Reconstr. Surg. (1992) [Pubmed]
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