2009, Número 4
<< Anterior Siguiente >>
Patol Rev Latinoam 2009; 47 (4)
De la fantasía a la autopsia
Moreno VER, Aguinaga RM
Idioma: Español
Referencias bibliográficas: 38
Paginas: 359-365
Archivo PDF: 312.24 Kb.
FRAGMENTO
Todos, desde que éramos niños, hemos crecido con un sin número de personajes de ficción.
REFERENCIAS (EN ESTE ARTÍCULO)
Demyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of medial facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 1964;34:256-63.
Golden JA. Holoprosencephaly: a defect in brain pattering. J Neuropathol Exp Neurol 1998;57:991-9.
Takeda S, Yonekawa Y, Tanaka Y, Okada Y, et al. Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis. J Cell Biol 1999;145:825-36.
Olsen CL, Hughes JP, Youngblood LG, et al. The epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. Am J Med Genet 1997;73:217-26.
Bullen PJ, Rankin JM, et al. Investigation of epidemiology and prenatal diagnosis in the North of England. Am J Obstet Gynecol 2001;184(6):1256-62.
Croen LA, Shaw GM, et al. Holoprosencephaly: epidemiologic and clinical characteristics of a Californian population. Am J Med Genet 1996;64:465-7.
Scriver C, Beaudet A, et al. Holoprosencephaly, in the metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001;p:6215.
Barr M, Hanson JW, Currey K, et al. Holoprosencephaly in infants of diabetic mothers. J Pediatr 1983;102:565-8.
Ronen GM, Andrews WL. Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 1991;40:151-4.
Lammer EJ, Chen DT, et al. Retinoic acid embriopathy. N EnglJ Med 1985;313:837-41.
Rosa FW, Wilk AC, Kelsey FO. Vitamin A cogeners. In: Sever JL, Brent KL, editors. Teratogen update: environmentally induced birth defects risks. New York: Alan R. Liss, 1986;pp:61- 70.
Duhamel B. From mermaid to anal imperforation: the syndrome of caudal regression. Arch Dis Child 1961;36:152-5.
Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A. Sirenomelia. Indian J Pediatr 2003;70(7):589-91.
Smith WD, Jones KL. Recognizable patterns of human malformation. Genetic, embriologic and clinical aspects. 2nd ed. Saunders, 1976;pp:486-7.
García J, Romero-Araus J. Sirenomelia. Ginecol Obstet Mex 1996;64:442-9.
Hortelano M, Palencia J, García J, Reig C, et al. [Caudal regression syndrome]. Rev Neurol 1998;27(158):613-5.
Blaicher W, Lee A, Deutinger J, Bernaschek G. Sirenomelia: early prenatal diagnosis with combined two and three dimensional sonography. Ultrasound Obstet Gynecol 2001;17:542-5.
Kalter H. Case reports of malformatios associated with maternal diabetes: history and critique. Clin Genet 1993;43(4):174- 9.
Kallen B, Castilla E, Lancastes L. The cyclope and the mermaid: an epidemiological study of two types of rare malformation. J Med Genet 1992;29:30-35.
Lynch SA, Wrigth C. Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabethic mother. Clin Dysmorphol 1997;6(1):75-80.
Von Lennep E, El Khazen N, De Pierreux G, Amy JJ, et al. A case of parcial sirenomelia and possible vitamin A teratogenesis. Prenat Diagn 1985;5:35-40.
Sakai Y, Meno C, Fujii H, Nishino J, et al. The retinoic acidinactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterio-posterior axis within the mouse embryo. Genes Dev 2001;15:213-25.
Chan BW, Chan KS, Koide T, Yeung SM, et al. Maternal diabetes increases the risk of caudal regression caused by retinoic acid. Diabetes 2002;51:2811-6.
Leung MB, Choy KW, Copp AJ, Pang CP, Shum AS. Hyperglycaemia potentiates the teratogenicity of retinoic acid in diabetic pregnancy in mice. Diabetologia 2004;47:515-22.
Jones KL. Smith’s recognizable patterns of human malformation. Philadelphia: WB Saunders, 1997;p:862.
Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP. Five cases of caudal regression with an aberrant abdominal umbilical artery: further support for a caudal regression –sirenomelia spectrum. Am J Med Genet A 2007;143A:3175-84.
Rudd NL, Klimek ML. Familial caudal dysgenesis: Evidence for a major dominant gene. Clin Genet 1990;38:170-5.
Akbiyik F, Balci S, Akkoyun I, Aktas D, Cakmak O. Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin. Clin Dysmorphol 2000;9:227-9.
Opitz J, Zanni G, Reynolds J, Gilbert Barness E, et al. Defects of blastogenesis. Am J Med Genet 2002;115:269-86.
Kjaer KW, Keeling JW, Opitz JM, Gilbert Barness E, et al. Sirenomelia sequence according to the distance between the first sacral vertebrae and the ilia. Am J Med Genet 2003;120A:503- 8.
Stanton MP, Penington EC, Hutson JM. A surviving infant with sirenomelia (Mermaid syndrome) asociated with absentbladder. J Pediatr Surg 2003;38(8):1266-8.
Bianchi D, Crombleholme T, D Alton M. Sirenomelia. Fetology. New York: McGraw Hill, 2000;pp:649-55.
Stocker J, Heifetz S. Sirenomelia, a morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol 1987;10:7-50.
Sepulveda W, Romero R, Pryde PG, Wolfe HM, et al. Prenatal diagnosis of sirenomelus with color Doppler ultrasonography. Am J Obstet Gynecol 1994;170:1377-9.
Solano F, Saldarriaga W, Isaza C, et al. Foco epidémico de sirenomelia en Cali, Colombia. Informe de 4 casos en el Hospital Universitario del Valle en 54 días. Colombia Médica 2006;37(3).
Lugones B, Pichs G, Ranirez B, Miyiar P. Sirenomelia. Rev Cubana Med Gen Integr 2006; 22 (2).
Perez-Aytes A, Montero L, Gomez J, Paya A. Single aberrant umbilical artery in a fetus with severe caudal defects: sirenomelia or caudal dysgenesis. Am J Med Genet 1997;69(4):409-12.
Di Lorenzo M, Brandt ML, Veillux A. Sirenomelia in a identical twin: a case report. Pediatr Sur 1991;26(11):1334-6.