How Can We Prevent Birth of Fetus With Holoprosencephaly? Anatomical and Embryological Aspects of Holoprosencephaly.

Fetus With Holoprosencephaly

Authors

  • Dr. Rajesh B Astik
  • Dr. Urvi H Dave

Keywords:

Cyclopia, gestational diabetes, holoprosencephaly, prosencephalon

Abstract

Objectives: Holoprosencephaly is a rare condition characterized by different degrees of fused ventricles of the brain resulting from impaired midline cleavage of the embryonic forebrain. The present study aimed to identify cases of holoprosencephaly over a period of three years, to assess the incidence of this malformation, and if possible, prevention of birth of such malformed fetus or infant through genetic counseling. Methods: Diverse features of holoprosencephalic fetus or infant and incidence of holoprosencephaly were studied at GSL Medical College, Rajahmundry; Andhra Pradesh. Results: Incidence found for holoprosencephaly is 2.58 per 10,000 births. Out of total four cases of holoprosencephaly two cases were of alobar and there was each case of semilobar and lobar holoprosencephaly. In two cases there was association between holoprosencephaly and gestational diabetes and in another two cases; there was a familial distribution of holoprosencephaly. Conclusion: Prenatal diagnosis of this rare disorder and genetic counseling has immense importance to prevent holoprosencephaly.

References

1. Sadler TW. Langman’s Medical Embryology. 11th edition. Central Nervous System. Lippincott. Williams & Wilkins, London. 2009. 315-316.
2. Kurtz AB, Wapner RJ, Rubin CS, Cole-Beuglet C, Ross D, Goldberg BB. Ultrasound criteria for in utero diagnosis of microcephaly. J Clin Ultrasound. 1980; 8(1): 11-16.
3. Blaas HG, Eik-Nes SH, Vainio T, Isaksen CV. Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three-dimensional ultrasound. Ultrasound Obstet Gynecol. 2000; 15(1): 62-65.
4. DeMyer WE, Zeman W, Palmer CG. Familial alobar holoprosencephaly (arhinencephaly) with median lip and palate. Report of patients with 46 chromosomes. Neurology. 1963; 13: 913–918.
5. Simon EM, Hevner RF, Pinter JD et al. The middle interhemispheriv variant of holoprosencephaly. AJNR Am J Neuroradiol. 2002; 23(1): 151–156.
6. Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characterists of a California population. Am J Med Genet. 1996; 64(3): 465–472.
7. DeMyer WE, Zeman W, Palmer CG. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics. 1964; 34(2): 256-263.
8. Matsunaga E, Shiota K. Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology. 1977; 16(3): 261–272.
9. Whiteford ML, Tolmie JL. Holoprosencephaly in the west of Scotland 1975-1994. J Med Genet. 1996; 33(7): 578–584.
10. Roach E, DeMyer WE, Conneally PM, Palmer CG, Merritt AD. Holoprosencephaly: birth data, genetic and demographic analyses of 30 families. Birth defects. 1975; 11(2): 294-313.
11. Nanni L, Ming JE, Bocian M et al. The mutational spectrum of the Sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. 1999; 8(13): 2479-2488.
12. Taylor AI. Autosomal trisomy syndromes: a detailed study of 27 cases of Edward’s syndrome and 27 cases of Patau’s syndrome. J Med Genet. 1968; 5(3): 227-252.
13. Barr M, Hanson JW, Currey K et al. Holoprosencephaly in infants of diabetic mothers. J Pediatr. 1983; 102(4): 565-568.
14. Kalter H. Case reports of malformations associated with maternal diabetes: history and critique. Clin Genet. 1993; 43(4): 174-179.
15. Muller F, O’Rahilly R. Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain. Am J Anat. 1989; 185(4): 391-414.
16. Smits-van Prooije AE, Vermeij-Keers C, Poelmann RE, Mentink MM, Dubbeldam JA. The formation of mesoderm and mesectoderm in 5- to 41-somite rat embryos cultured in vitro, using WGA-Au as a marker. Anat Embryol (Berl). 1988; 177(3): 245-256.
17. Brown SA, Warburton D, Brown LY et al. Holoprosencephaly due to mutation in ZIC2, a homologue of Drosophila odd-paired. Nat Genet. 1998; 20(2): 180-183.

Downloads

Published

2011-12-31

How to Cite

Astik, D. R. B., & Dave, D. U. H. (2011). How Can We Prevent Birth of Fetus With Holoprosencephaly? Anatomical and Embryological Aspects of Holoprosencephaly.: Fetus With Holoprosencephaly. National Journal of Integrated Research in Medicine, 2(4), 56–59. Retrieved from http://nicpd.ac.in/ojs-/index.php/njirm/article/view/1942

Issue

Section

Original Articles