Temple综合征1例并文献复习

杨婷婷, 王佩琪, 赵玲, 刘晓静

中国儿童保健杂志 ›› 2021, Vol. 29 ›› Issue (6) : 694-696.

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PDF(438 KB)
中国儿童保健杂志 ›› 2021, Vol. 29 ›› Issue (6) : 694-696. DOI: 10.11852/zgetbjzz2021-0098
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Temple综合征1例并文献复习

  • 杨婷婷, 王佩琪, 赵玲, 刘晓静
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杨婷婷, 王佩琪, 赵玲, 刘晓静. Temple综合征1例并文献复习[J]. 中国儿童保健杂志. 2021, 29(6): 694-696 https://doi.org/10.11852/zgetbjzz2021-0098
中图分类号: R725.9   

参考文献

[1] Tortora A,La Sala D,Lonardo F,et al.Maternal uniparental disomy of the chromosome 14:need for growth hormone provocative tests also when a deficiency is not suspected[J].BMJ Case Rep,2019,12(5):e228662.
[2] Ioannides Y,Lokulo-Sodipe K,Mackay DJ,et al.Temple syndrome:improving the recognition of an underdiagnosed chromosome 14 imprinting disorder:an analysis of 51 published cases[J].J Med Genet,2014,51(8):495-501.
[3] Dauber A,Cunha-Silva M,Macedo DB,et al.Paternallyinherited DLK1 deletion associated with familial central precocious puberty[J].J Clin Endocrinol Metab,2017,102(5):1557-1567.
[4] Moon YS,Smas CM,Lee K,et al.Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity[J].Mol Cell Biol,2002,22(15):5585-5592.
[5] Goto M,Kagami M,Nishimura G,et al.A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome[J].Am J Med Genet A,2016,170(9):2483-2485.
[6] Lande A,Kroken M,Rabben K,et al.Temple syndrome as a differential diagnosis to Prader-Willi syndrome:Identifying three new patients[J].Am J Med Genet A,2018,176(1):175-180.
[7] Habib WA,Brioude F,Azzi S,et al.Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders[J].Sci Adv,2019,5(2):9425.
[8] Wakeling EL,Brioude F,Lokulo-Sodipe O,et al.Diagnosis and management of Silver-Russell syndrome:first international consensus statement[J].Nat Rev Endocrinol,2017,13(2):105-124.
[9] 中华医学会儿科学分会内分泌遗传代谢学组,《中华儿科杂志》编辑委员会. 中国Prader-Willi综合征诊治专家共识(2015)[J].中华儿科杂志,2015,53(6):419-424.
[10] Kagami M,Nagasaki K,Kosaki R,et al.Temple syndrome:comprehensive molecular and clinical findings in 32 Japanese patients[J].Genet Med,2017,19(12):1356-1366.
[11] Brightman DS,Lokulo-Sodipe O,Searle BA,et al.Growth hormone improves short-term growth in patients with Temple syndrome[J].Horm Res Paediatr,2018,90(6):407-413.
[12] Luk HM. A rare cause of temple syndrome[J].Clin Dysmorphol,2017,26(1):58-60.
[13] Severi G,Bernardini L,Briuglia S,et al.New patients with Temple syndrome caused by 14q32 deletion:genotype-phenotype correlations and risk of thyroid cancer[J].Am J Med Genet A,2016,170A(1):162-169.
[14] Buiting K,Kanber D,Martin-Subero JI,et al.Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster[J].Hum Mutat,2008,29(9):1141-1146.

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