Genetic causes of syndromic craniosynostoses

European Journal of Paediatric Neurology

Volumn 17, Issue 3, 2013, Pages 221-224

  Jezela Stanek, Aleksandra ^a   Krajewska Walasek, Małgorzata ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Craniosynostosis; Molecular genetics

Indexed keywords

FIBRILLIN 1; FIBROBLAST GROWTH FACTOR RECEPTOR; TRANSCRIPTION FACTOR TWIST;

ACROCEPHALOPOLYSYNDACTYLY TYPE 2; ACROCEPHALOSYNDACTYLY; ANTLEY BIXLER SYNDROME; BALLER GEROLD; BEARE STEVENSON CUTIS GYRATA; CRANIOFACIAL SYNOSTOSIS; CRANIOFRONTONASAL SYNDROME; CROUZON SYNDROME; EFNB1 GENE; FGFR1 GENE; FGFR2 GENE; FGFR3 GENE; GENE; GENE MUTATION; GREIG CEPHALOPOLYSYNDACTYLY; HUMAN; MOLECULAR GENETICS; MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS; PRIORITY JOURNAL; RAB23 GENE; REVIEW; TRIGONOCEPHALY; TWIST1 GENE; VELOCARDIOFACIAL SYNDROME;

ACROCEPHALOSYNDACTYLIA; CRANIOSYNOSTOSES; HUMANS; SYNDROME;

EID: 84875861326     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.09.009     Document Type: Review

References (18)

1. OMIM (TM) Bethesda, MD: McKusick-Nathans Institute for genetic Medicine, John Hopkins University, National Center for Biotechnology Information, National Library of Medicine; 2008. Online Mendelian Inheritance in Man.
2. J. Bonaventure, and V. El Ghouzzi Molecular and cellular bases of syndromic craniosynostoses Expert Rev Mol Med 5 2003 1 17
3. A.O. Wilkie, E.G. Bochukova, R.M. Hansen, I.B. Taylor, S.V. Rannan Eliya, and J.C. Byren Clinical dividends from the molecular genetic diagnosis of craniosynostosis Am J Med Genet A 143A 2007 1941 1949
4. L. Arnaud-Lopez, R. Fragoso, J. Mantilla-Capacho, and P. Barros-Nunez Crouzon with acanthosis nigricans: further delineation of the syndrome Clin Genet 72 2007 405 410
5. A. Vogels, and J.P. Fryns Pfeiffer syndrome Orphanet J Rare Dis 1 2006 19
6. G.M. Abdel-Salam, L. Flores-Sarnat, M.O. El-Ruby, J. Parboosingh, P. Bridge, and M.M. Eid Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: an expansion of the phenotype Am J Med Genet 155A 2011 207 214
7. P.N. Robinson, L.M. Neumann, S. Demuth, H. Enders, U. Jung, and R. König Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis Am J Med Genet A 135 2005 251 262
8. P. Galea, and J.L. Tolmie Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia) J Med Genet 27 1990 784 787
9. W.L. Miller, N. Huang, A.V. Pandey, C.E. Fluck, and V. Agarwal P450 oxidoreductase deficiency: a new disorder of steroidogenesis Ann N Y Acad Sci 1061 2005 100 108
10. W.L. Miller P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations Trends Endocrinol Metab 15 2004 311 315
11. R.J. Gorlin, M.M. Cohen Jr., and R.C.M. Hennekam Syndromes with unusual facies: well-known syndromes Syndromes of the head and neck 4th ed. 2001 Oxford Univ. Press New York 995 996
12. S.R.F. Twigg, R. Kan, C. Babbs, E.G. Bochukova, S.P. Robertson, and S.A. Wall Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome Proc Natl Acad Sci 101 2004 8652 8657
13. I. Wieland, R. Makarov, W. Reardon, S. Tinschert, A. Goldenberg, and P. Thierry Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic Eur J Hum Genet 16 2008 184 191
14. C.A. Perlyn, and J.L. Marsh Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings Plast Reconstr Surg 121 2008 971 981
15. R. Fonseca, M.A. Costa-Lima, V. Cosentino, and I.M. Orioli Second case of Beare-Stevenson syndrome with an FGFR2 ser372cys mutation Am J Med Genet 146A 2008 658 660
16. W. Kress, B. Peterson, H. Collmann, and T. Grimm An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly Cytogenet Cell Genet 91 2000 138 140
17. H.H. Arts, E.M.H.F. Bongers, D.A. Mans, S.E.C. van Beersum, M.M. Oud, and E. Bolat C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome J Med Genet 48 2011 390 395
18. C. Gilissen, H.H. Arts, A. Hoischen, L. Spruijt, D.A. Mans, and P. Arts Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome Am J Hum Genet 87 2010 418 423