Beare-Stevenson syndrome: Two Dutch patients with cerebral abnormalities

Pediatric Neurology

Volumn 44, Issue 4, 2011, Pages 303-307

  Barge Schaapveld, Daniela Q C M ^a   Brooks, Alice S ^b   Lequin, Maarten H ^b   Van Spaendonk, Rosalinda ^c   Vermeulen, R Jeroen ^c   Cobben, Jan Maarten ^a  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR 2; TYROSINE;

ANAMNESIS; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; BEARE STEVENSON SYNDROME; CASE REPORT; CHORION VILLUS SAMPLING; COMPUTER ASSISTED TOMOGRAPHY; DNA DETERMINATION; HUMAN; HUMAN TISSUE; NETHERLANDS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CEREBRAL CORTEX; CRANIOSYNOSTOSES; HUMANS; MAGNETIC RESONANCE IMAGING; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RESPIRATORY INSUFFICIENCY;

EID: 79952556926     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.11.015     Document Type: Article

References (17)

1. Hall BD, Cadle RG, Golabi M, et al. Beare-Stevenson cutis gyrata syndrome. Am J Med Genet 1992;44:82-9.
2. Beare JM, Dodge JA, Nevin NC. Cutis gyratum, acanthosis nigricans and other congenital anomalies. A new syndrome. Br J Dermatol 1969;81:241-7.
3. Stevenson RE, Ferlauto GJ, Taylor HA. Cutis gyratum and acanthosis nigricans associated with other anomalies: A distinctive syndrome. J Pediatr 1978;92:950-2.
4. Przylepa KA, PaznekasW, Zhang M, et al. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet 1996;13:492-4. (Pubitemid 26259929)
5. Roscioli T, Flanagan S, Mortimore RJ, et al. Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. Am J Med Genet 2001;101:187-94. (Pubitemid 32565692)
6. Slavotinek A, Crawford H, Golabi M, et al. Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. Am J Med Genet A 2009;149A:1814-7.
7. Vermeulen RJ, Wilke M, Horber V, et al. Microcephaly with simplified gyral pattern: MRI classification. Neurology 2010;74:386-91.
8. Kan SH, Elanko N, Johnson D, et al. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 2002;70:472-86. (Pubitemid 34112300)
9. Hennekam RC. What to call a syndrome. Am J Med Genet A 2007;143A:1021-4. (Pubitemid 46709270)
10. Eun SH, Ha KS, Je BK, et al. The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. J Korean Med Sci 2007;22:352-6.
11. Vargas RA, Maegawa GH, Taucher SC, et al. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. Am J Med Genet A 2003;121A:41-6. (Pubitemid 37059340)
12. de Jong T, Bannink N, Bredero-Boelhouwer HH, et al. Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg 2010;63:1635-41.
13. Donmez FY, Yildirim M, Erkek N, et al. Hippocampal abnormalities associated with various congenital malformations. Childs Nerv Syst 2009;25:933-9.
14. Inglis-Broadgate SL, Thomson RE, Pellicano F, et al. FGFR3 regulates brain size by controlling progenitor cell proliferation and apoptosis during embryonic development. Dev Biol 2005;279:73-85. (Pubitemid 40222170)
15. Thomson RE, Pellicano F, Iwata T. Fibroblast growth factor receptor 3 kinase domain mutation increases cortical progenitor proliferation via mitogen-activated protein kinase activation. J Neurochem 2007;100:1565-78. (Pubitemid 46376195)
16. Iwata T, Hevner RF. Fibroblast growth factor signaling in development of the cerebral cortex. Dev Growth Differ 2009;51:299-323.
17. Akai T, Iizuka H, Kishibe M, et al. A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene. Pediatr Neurosurg 2002;37:97-9. (Pubitemid 34977959)