1例骨斑点症伴身材矮小报道及家系调查

王丽波,麻宏伟,王琳,胡曼,任爽

中国当代儿科杂志 ›› 2011, Vol. 13 ›› Issue (11) : 929-930.

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中国当代儿科杂志 ›› 2011, Vol. 13 ›› Issue (11) : 929-930.
病例报告

1例骨斑点症伴身材矮小报道及家系调查

  • 王丽波,麻宏伟,王琳,胡曼,任爽
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Osteopoikilosis complicated by short stature: a case report and a family survey

  • WANG Li-Bo, MA Hong-Wei, WANG Lin, REN Shuang
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王丽波,麻宏伟,王琳,胡曼,任爽. 1例骨斑点症伴身材矮小报道及家系调查[J]. 中国当代儿科杂志. 2011, 13(11): 929-930
WANG Li-Bo, MA Hong-Wei, WANG Lin, REN Shuang. Osteopoikilosis complicated by short stature: a case report and a family survey[J]. Chinese Journal of Contemporary Pediatrics. 2011, 13(11): 929-930
中图分类号: R681   

参考文献

[1]Wynne-Davies R, Hall CM, Apley AG. Atlas of skeletal dysplasias[M]. Edinburgh; New York: Churchill Livingstone, 1985: 506-507.

[2]Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis[J]. Nat Genet, 2004, 36(11): 1213-1218.

[3]Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP. Desctivating germline mutations in LEMD3 cause osteopoililosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis[J]. J Bone Miner Res, 2007, 22(2): 243-250.

[4]Couto AR, Bruges-Armas J, Peach CA, Chapman K, Brown MA, Wordsworth BP, et al. A novel LEMD3 mutation common to patients with osteopoikiliosis with and without melorheostosis[J]. Calcif Tissue Int, 2007, 81(2): 81-84.

[5]Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP. Novel and recurrent germline LEMD3 mutations cauding Buschke-Ollendorff syndrome and osteopoililosis but not isolated melorheostosis[J]. Clin genet, 2009, 75(6): 556-561.

[6]Baadanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, et al. Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family[J]. BMC Med Genet, 2010, 11: 110.

[7]Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, et al. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14[J]. J Med Genet, 2007, 44(7): 264-268.

[8]Jurenka SB, Van Allen. Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome?[J]. Am J Med Genet, 1995, 57(1): 6-9.

[9]Mari F, Hermanns P, Maria L, Galluzzi F, Scott D, Lee B, et al. Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis[J]. Europ J Human Genet, 2009, 17(10): 1141-1147.

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