Displasia tanatofórica de grado II: reporte de un caso y revisión de la literatura

Maroteaux, 1967, Le diagnostic des nanismes chondrodystrophiques chez les nouveau-nes, Arch Fr Pediatr, 25, 241 Waller, 2008, The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US, Am J Med Genet, 146, 2385, 10.1002/ajmg.a.32485 Cohen, 2000 Bonaventura, 1996, Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia and thanatophoric dwarfism, Am J Med Genet, 84, 476 Wilcox, 1998, Molecular, radiologic and histopathologic correlations in thanatophoric dysplasia, Am J Med Genet, 78, 274, 10.1002/(SICI)1096-8628(19980707)78:3<274::AID-AJMG14>3.0.CO;2-C Martinez, 2010, Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia, Am J Med Gen, 245, 10.1002/ajmg.a.33188 Cohen, 2002, Some chondrodysplasias with short limbs: molecular perspectives, Am J Med Genet, 112, 304, 10.1002/ajmg.10780 Cohen, 1998, Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at molecular level, Int J Oral Maxillofac Surg, 27, 451, 10.1016/S0901-5027(98)80036-2 Paladini, 2007 Schramm, 2009, Prenatal sonographic diagnosis of skeletal dysplasias, Ultrasound Obstet Gynecol, 34, 160, 10.1002/uog.6359 Evans, 2006 Krakow, 2009, Guidelines for the prenatal diagnosis of fetal skeletal dysplasias, Genet Med, 11, 127, 10.1097/GIM.0b013e3181971ccb Campos-Acevedo, 2010, Displasia tanatofórica en un embarazo gemelar: Hallazgos prenatales y revisión de literatura, Perinatol Reprod Hum, 24, 36 Bellus, 2000, Distinct missense mutation of the FGFR3 lys650 codon modulate receptor kinase activation and tre severity of the skeletal dysplasia phenotype, Am J Hum Genet, 67, 1411, 10.1086/316892 Peña, 2012, Enanismo tanatofórico: presentación de un caso, Clin Invest Gin Obst, 39, 42 Islas-Domínguez, 2008, Un caso de displasia tanatofórica tipo I, Rev Mex Pediatr, 75, 231