Congenital scoliosis in smith-magenis syndrome: A case report and review of the literature

Medicine (United States)

Volumn 94, Issue 17, 2015, Pages e705-

  Li, Zheng ^a   Shen, Jianxiong ^a   Liang, Jinqian ^a   Sheng, Lin ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AGENESIS; ARTICLE; CASE REPORT; CHINESE; CHROMOSOME 17P; COBB ANGLE; CONDUCTION DEAFNESS; CONGENITAL DISORDER; ELECTROCARDIOGRAM; EPIGLOTTIS; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE DELETION; HETEROZYGOTE; HUMAN; HYPERTROPHY; MENTAL DEFICIENCY; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; SCOLIOSIS; SLEEP DISORDERED BREATHING; SMITH MAGENIS SYNDROME; SPINE FUSION; SPINE RADIOGRAPHY; TONSIL DISEASE; X RAY FILM; PROCEDURES; RADIOGRAPHY;

ADOLESCENT; FEMALE; HUMANS; SCOLIOSIS; SMITH-MAGENIS SYNDROME; SPINAL FUSION;

EID: 84937511988     PISSN: 00257974     EISSN: 15365964     Source Type: Journal    
DOI: 10.1097/MD.0000000000000705     Document Type: Article

References (23)

1. Elsea SH, Girirajan S. Smith-Magenis syndrome. Eur J Hum Genet. 2008;16:412-421.
2. Girirajan S, Truong HT, Blanchard CL, et al. A functional network module for Smith-Magenis syndrome. Clin Genet. 2009;75:364-374.
3. Kocher L, Brun J, Devillard F, et al. Phase advance of circadian rhythms in Smith-Magenis syndrome: a case study in an adult man. Neurosci Lett. 2015;585:144-148.
4. Sanford EF, Bermudez-Wagner K, Jeng LJ, et al. Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. Am J Med Genet Part A. 2011;155A:2816-2820.
5. Smith AC, Dykens E, Greenberg F. Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). Am J Med Genet. 1998;81:179-185.
6. Vieira GH, Rodriguez JD, Carmona-Mora P, et al. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. Eur J Hum Genet. 2012;20:148-154.
7. Huang C, Yang YF, Zhang H, et al. Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China. Genet Mol Res. 2012;11:2321-2327.
8. Tsirikos AI, Baker AD, McClean C. Surgical treatment of scoliosis in Smith-Magenis syndrome: a case report. J Med Case Rep. 2010;4:26.
9. Wilde L, Silva D, Oliver C. The nature of social preference and interactions in Smith-Magenis syndrome. Res Dev Disabil. 2013;34:4355-4365.
10. Williams SR, Girirajan S, Tegay D, et al. Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. J Med Genet. 2010;47:223-229.
11. Gamba BF, Vieira GH, Souza DH, et al. Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients. Genet Mol Res. 2011;10:2664-2670.
12. Chik CL, Rollag MD, Duncan WC, et al. Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome. Am J Med Genet Part A. 2010;152A:96-101.
13. Gropman AL, Elsea S, Duncan WC Jr et al. New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 2007;20:125-134.
14. Spilsbury J, Mohanty K. The orthopaedic manifestations of Smith-Magenis syndrome. J Pediatr Orthop Part B. 2003;12:22-26.
15. Boudreau EA, Johnson KP, Jackman AR, et al. Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. Am J Med Genet Part A. 2009;149A:1382-1391.
16. Greenberg F, Lewis RA, Potocki L, et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet. 1996;62:247-254.
17. Vilhais-Neto GC, Maruhashi M, Smith KT, et al. Rere controls retinoic acid signalling and somite bilateral symmetry. Nature. 2010;463:953-957.
18. Mark M, Ghyselinck NB, Chambon P. Function of retinoic acid receptors during embryonic development. Nucl Recept Signal. 2009;7:e002.
19. Duester G. Retinoic acid regulation of the somitogenesis clock. Birth Defects Res Part C, Embryo Today. 2007;81:84-92.
20. Hu XT, Zuckerman KS. Role of cell cycle regulatory molecules in retinoic acid-and vitamin D3-induced differentiation of acute myeloid leukaemia cells. Cell Prolif. 2014;47:200-210.
21. Vermot J, Gallego Llamas J, Fraulob V, et al. Retinoic acid controls the bilateral symmetry of somite formation in the mouse embryo. Science. 2005;308:563-566.
22. Li Z, Shen J, Wu WK, et al. Vitamin A deficiency induces congenital spinal deformities in rats. PloS One. 2012;7:e46565.
23. Tug E, Cine N, Aydin H. A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome. Genet Couns. 2011;22:11-19.