medigraphic.com
Patología Revista Latinoamericana

2009, Number 4

<< Back Next >>

Patol Rev Latinoam 2009; 47 (4)

From fantasy to autopsy

Moreno VER, Aguinaga RM

Language: Spanish
References: 38
Page: 359-365
PDF size: 312.24 Kb.


Text Extraction

No abstract


REFERENCES

  1. 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.

  2. Golden JA. Holoprosencephaly: a defect in brain pattering. J Neuropathol Exp Neurol 1998;57:991-9.

  3. 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.

  4. 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.

  5. 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.

  6. Croen LA, Shaw GM, et al. Holoprosencephaly: epidemiologic and clinical characteristics of a Californian population. Am J Med Genet 1996;64:465-7.

  7. Scriver C, Beaudet A, et al. Holoprosencephaly, in the metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001;p:6215.

  8. Barr M, Hanson JW, Currey K, et al. Holoprosencephaly in infants of diabetic mothers. J Pediatr 1983;102:565-8.

  9. Ronen GM, Andrews WL. Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 1991;40:151-4.

  10. Lammer EJ, Chen DT, et al. Retinoic acid embriopathy. N EnglJ Med 1985;313:837-41.

  11. 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.

  12. Duhamel B. From mermaid to anal imperforation: the syndrome of caudal regression. Arch Dis Child 1961;36:152-5.

  13. Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A. Sirenomelia. Indian J Pediatr 2003;70(7):589-91.

  14. Smith WD, Jones KL. Recognizable patterns of human malformation. Genetic, embriologic and clinical aspects. 2nd ed. Saunders, 1976;pp:486-7.

  15. García J, Romero-Araus J. Sirenomelia. Ginecol Obstet Mex 1996;64:442-9.

  16. Hortelano M, Palencia J, García J, Reig C, et al. [Caudal regression syndrome]. Rev Neurol 1998;27(158):613-5.

  17. 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.

  18. Kalter H. Case reports of malformatios associated with maternal diabetes: history and critique. Clin Genet 1993;43(4):174- 9.

  19. 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.

  20. 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.

  21. 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.

  22. 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.

  23. 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.

  24. 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.

  25. Jones KL. Smith’s recognizable patterns of human malformation. Philadelphia: WB Saunders, 1997;p:862.

  26. 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.

  27. Rudd NL, Klimek ML. Familial caudal dysgenesis: Evidence for a major dominant gene. Clin Genet 1990;38:170-5.

  28. 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.

  29. Opitz J, Zanni G, Reynolds J, Gilbert Barness E, et al. Defects of blastogenesis. Am J Med Genet 2002;115:269-86.

  30. 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.

  31. Stanton MP, Penington EC, Hutson JM. A surviving infant with sirenomelia (Mermaid syndrome) asociated with absentbladder. J Pediatr Surg 2003;38(8):1266-8.

  32. Bianchi D, Crombleholme T, D Alton M. Sirenomelia. Fetology. New York: McGraw Hill, 2000;pp:649-55.

  33. Stocker J, Heifetz S. Sirenomelia, a morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol 1987;10:7-50.

  34. 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.

  35. 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).

  36. Lugones B, Pichs G, Ranirez B, Miyiar P. Sirenomelia. Rev Cubana Med Gen Integr 2006; 22 (2).

  37. 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.

  38. Di Lorenzo M, Brandt ML, Veillux A. Sirenomelia in a identical twin: a case report. Pediatr Sur 1991;26(11):1334-6.




2020     |     www.medigraphic.com