Perfil clínico de una cohorte de pacientes con síndrome de Silver-Russell atendidos en el Hospital Infantil de México Federico Gómez de 1998 a 2012

Boletin Medico del Hospital Infantil de Mexico - Tập 71 - Trang 218-226 - 2014
Carolina Isabel Galaz-Montoya1, Constanza García-Delgado1, Alicia Cervantes-Peredo2,3, Leticia García-Morales4, Verónica Fabiola Morán-Barroso1
1Departamento de Genética, Hospital Infantil de México Federico Gómez, México D.F., México
2Servicio de Genética, Hospital General de México Dr. Eduardo Liceaga, México D.F., México
3Facultad de Medicina, Universidad Nacional Autónoma de México, México D.F., México
4Departamento de Endocrinología, Hospital Infantil de México Federico Gómez, México D.F., México

Tài liệu tham khảo

Wakeling, 2011, Silver-Russell syndrome, Arch Dis Child, 96, 1156, 10.1136/adc.2010.190165 Silver, 1953, Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins, Pediatrics, 12, 368, 10.1542/peds.12.4.368 Russell, 1954, A syndrome of intra-uterine-dwarfism recognizable at birth with cranio-facial dysostosis, disproportionate short arms, and other anomalies (5 examples), Proc Roy Soc Med, 47, 1040 Varma, 2013, Clinical spectrum of Silver-Russell syndrome, Contemp Clin Dent, 4, 363, 10.4103/0976-237X.118346 Eggermann, 2009, Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation, Pediatrics, 123, e929, 10.1542/peds.2008-3228 Saal, 1993, Russell-Silver syndrome. 2011 Eggermann, 2010, Silver-Russell syndrome: Genetic basis and molecular genetic testing, Orphanet J Rare Dis, 5, 2, 10.1186/1750-1172-5-19 Behnecke, 2012, Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial translocation t(7;13), Clin Genet, 82, 494, 10.1111/j.1399-0004.2011.01792.x Hennekam, 2010, 464 Moore, 2011, What is the evidence for causal epigenetic influences on the Silver-Russell syndrome phenotype?, Epigenetics, 3, 529 Cocchi, 2013, Silver–Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization, Am J Med Genet, 161A, 2652, 10.1002/ajmg.a.36145 Horsthemke, 2010, Mechanisms of imprint dysregulation, Am J Med Genet C Semin Med Genet, 154C, 321, 10.1002/ajmg.c.30269 Girardot, 2013, Epigenetic deregulation of genomic imprinting in humans: Causal mechanisms and clinical implications, Epigenomics, 5, 715, 10.2217/epi.13.66 Yamazawa, 2010, Uniparental disomy and human disease: An overview, Am J Med Genet C Semin Med Genet, 154C, 329, 10.1002/ajmg.c.30270 Demars, 2011, New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects, Hum Mutat, 32, 1171, 10.1002/humu.21558 Demars, 2012, Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes, Clin Genet, 81, 350, 10.1111/j.1399-0004.2011.01822.x Kannenberg, 2012, Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome, Clin Genet, 81, 366, 10.1111/j.1399-0004.2012.01844.x Bonaldi, 2011, Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome, Am J Med Genet Part A, 155A, 2479, 10.1002/ajmg.a.34023 Chiesa, 2012, The KCNQ1OT1 imprinting control region and non-coding RNA: New properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases, Hum Mol Genet, 21, 10, 10.1093/hmg/ddr419 Wakeling, 2010, Epigenotype-phenotype correlations in Silver-Russell syndrome, J Med Genet, 47, 760, 10.1136/jmg.2010.079111 Lai, 1994, Cognitive abilities associated with the Silver-Russell syndrome, Arch Dis Child, 71, 490, 10.1136/adc.71.6.490 Price, 1999, The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria, J Med Genet, 36, 837 Netchine, 2007, 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigenetic-phenotypic correlations, J Clin Endocrinol Metab, 92, 3148, 10.1210/jc.2007-0354 Bartholdi, 2009, Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SSR): Results from a large cohort of patients with SSR and SSR-like phenotypes, J Med Genet, 46, 192, 10.1136/jmg.2008.061820 Dias, 2013, Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing, J Med Genet, 50, 635, 10.1136/jmedgenet-2013-101693 Kotzot, 2008, Maternal uniparental disomy 7 and Silver-Russell syndrome-clinical update and comparison with other subgroups, Eur J Med Genet, 51, 444, 10.1016/j.ejmg.2008.06.001 Eggerman, 2010, Russel-Silver syndrome, Am J Med Genet C Semin Med Genet, 154C, 355, 10.1002/ajmg.c.30274 Moreno, 2013, Perfil clínico de una cohorte de pacientes con síndrome de Beckwith-Wiedemann atendidos en el Hospital Infantil de México Federico Gómez de 2007 a 2012, Bol Med Hosp Infant Mex, 70, 166 Alvarenga, 1995, Renal tubular acidosis in the Silver-Russell syndrome, Am J Med Genet, 56, 173, 10.1002/ajmg.1320560212 Del Castillo, 2012, Nosología genética, 63 Firth, 2005, 242 Rogol, 2013, Children with asymptomatic short stature: What is an appropriate evaluation?, J Pediatr, 163, 937, 10.1016/j.jpeds.2013.05.004 Huber, 2011, Dubowitz syndrome: A review and implications for cognitive, behavioral, and psychological features, J Clin Med Res, 3, 147 Tsukahara, 1996, Dubowitz syndrome: Review of 141 cases including 36 previously unreported patients, Am J Med Genet, 63, 277, 10.1002/(SICI)1096-8628(19960503)63:1<277::AID-AJMG46>3.0.CO;2-I Brioude, 2013, CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome, J Med Genet, 50, 823, 10.1136/jmedgenet-2013-101691