Non-genetic risk factors for holoprosencephaly

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 154, Issue 1, 2010, Pages 73-85

  Johnson, Candice Y ^a,b   Rasmussen, Sonja A ^b  

^a EMORY UNIVERSITY   (United States)

^b NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

Cholesterol; Diabetes; Holoprosencephaly; Risk factors; Salicylates; Teratogens

Indexed keywords

ACETYLSALICYLIC ACID; ALKALOID DERIVATIVE; CARBAMAZEPINE; CHLORDIAZEPOXIDE; CHONDROITIN SULFATE IRON; CORTISONE; COTRIMOXAZOLE; FOLIC ACID; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; IMIPRAMINE; ISOTRETINOIN; KERNAC; LITHIUM; METHOTREXATE; ORAL CONTRACEPTIVE AGENT; PARACETAMOL; PENICILLIN G; PHENYTOIN; PLANT EXTRACT; PRIMIDONE; PROCAINE; RETINOIC ACID; SALAZOSULFAPYRIDINE; SALICYLATE SODIUM; SALICYLIC ACID; SEX HORMONE; TERATOGENIC AGENT; TRANEXAMIC ACID; UNCLASSIFIED DRUG; UNINDEXED DRUG; VALPROIC ACID;

ALCOHOL CONSUMPTION; ANEMIA; ARTIFICIAL INSEMINATION; BODY MASS; CASE REPORT; CLINICAL STUDY; CONGENITAL DISORDER; CYTOMEGALOVIRUS INFECTION; DEMOGRAPHY; DIABETES MELLITUS; EPIDEMIOLOGICAL DATA; FOREBRAIN; HOLOPROSENCEPHALY; HUMAN; HYPERTENSION; MATERNAL DIABETES MELLITUS; MENSTRUAL CYCLE; NONHUMAN; NUTRITION; PARITY; PREGNANCY; PRENATAL DRUG EXPOSURE; PREVALENCE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SEX RATIO; SMOKING; SOCIAL STATUS; SPONTANEOUS ABORTION; TWIN PREGNANCY; VAGINA BLEEDING;

ANIMALS; FEMALE; HOLOPROSENCEPHALY; HUMANS; HYPERTENSION; MATERNAL NUTRITIONAL PHYSIOLOGICAL PHENOMENA; MOTHERS; PHARMACEUTICAL PREPARATIONS; PREGNANCY; PREGNANCY COMPLICATIONS; PREGNANCY IN DIABETICS; PRENATAL EXPOSURE DELAYED EFFECTS; PREVALENCE; RISK FACTORS;

ANIMALIA;

EID: 76149131370     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30242     Document Type: Review

References (84)

1. Agapitos M, Georgiou-Theodoropoulou M, Koutselinis A, Papacharalampus N. 1986. Cyclopia and maternal ingestion of salicylates. Pediatr Pathol 6:309-310.
2. Anderson JL, Waller DK, Canfield MA, Shaw GM, Watkins ML, Werler MM. 2005. Maternal obesity, gestational diabetes, and central nervous system birth defects. Epidemiology 16:87-92.
3. Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN. 1983. Holoprosencephaly in infants of diabetic mothers. J Pediatr 102:565-568.
4. Becerra JE, Khoury MJ, Cordero JF, Erickson JD. 1990. Diabetes mellitus during pregnancy and the risks for specific birth defects: A population-based case-control study. Pediatrics 85:1-9.
5. Benawra R, Mangurten HH, Duffell DR. 1980. Cyclopia and other anomalies following maternal ingestion of salicylates. J Pediatr 96:1069-1071.
6. Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerriere A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V. 2009. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci. Hum Mutat 30:1175-1182.
7. Blader P, Strahle U. 1998. Ethanol impairs migration of the prechordal plate in the zebrafish embryo. Dev Biol 201:185-201.
8. Bonnemann C, Meinecke P. 1990. Holoprosencephaly as a possible embryonic alcohol effect: Another observation. Am J Med Genet 37:431-432.
9. Bullen PJ, Rankin JM, Robson SC. 2001. Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol 184:1256-1262.
10. Burck U, Held KR, Kitschke HJ. 1982. Occurrence of cyclopia, myelomeningocele, deafness, and abducens paralysis in siblings. Am J Med Genet 11:443-448.
11. Byrne PJ, Silver MM, Gilbert JM, Cadera W, Tanswell AK. 1987. Cyclopia and congenital cytomegalovirus infection. Am J Med Genet 28:61-65.
12. Cohen MM Jr. 1989a. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 40:211-235.
13. Cohen MM Jr. 1989b. Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-288.
14. Cohen MM Jr. 2006. Holoprosencephaly: Clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol 76:658-673.
15. Cohen MM Jr, Shiota K. 2002. Teratogenesis of holoprosencephaly. Am J Med Genet 109: 1-15.
16. Correa A, Gilboa SM, Besser LM, Botto LD, Moore CA, Hobbs CA, Cleves MA, Riehle-Colarusso TJ, Waller DK, Reece EA. 2008. Diabetes mellitus and birth defects. Am J Obstet Gynecol 199:237, e231-e239.
17. Coulter CL, Leech RW, Schaefer GB, Scheithauer BW, Brumback RA. 1993. Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects. Arch Neurol 50:771-775.
18. Coventry S, Kapur RP, Siebert JR. 1998. Cyclopamine-induced holoprosencephaly and associated craniofacial malformations in the golden hamster: Anatomic and molecular events. Pediatr Dev Pathol 1:29-41.
19. Croen LA, Shaw GM, Lammer EJ. 1996. Holoprosencephaly: Epidemiologic and clinical characteristics of a California population. Am J Med Genet 64:465-472.
20. Croen LA, Shaw GM, Lammer EJ. 2000. Risk factors for cytogenetically normal holoprosencephaly in California: A population-based case-control study. Am J Med Genet 90:320-325.
21. Edison RJ, Muenke M. 2004a. Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med 350:1579-1582.
22. Edison RJ, Muenke M. 2004b. Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet Part A 131A:287-298.
23. Edison RJ, Muenke M. 2005. Gestational exposure to lovastatin followed by cardiac malformation misclassified as holoprosencephaly. N Engl J Med 352:2759.
24. Feldmann G, Fendrich V, McGovern K, Bedja D, Bisht S, Alvarez H, Koorstra JB, Habbe N, Karikari C, Mullendore M, Gabrielson KL, Sharma R, Matsui W, Maitra A. 2008. An orally bioavailable small-molecule inhibitor of Hedgehog signaling inhibits tumor initiation and metastasis in pancreatic cancer. Mol Cancer Ther 7:2725-2735.
25. Forrester MB, Merz RD. 2000. Epidemiology of holoprosencephaly in Hawaii, 1986-97. Paediatr Perinat Epidemiol 14:61-63.
26. Garber K. 2008. Hedgehog drugs begin to show results. J Natl Cancer Inst 100:692-697.
27. Garzozi HJ, Barkay S. 1985. Case of true cyclopia. Br J Ophthalmol 69:307-311.
28. Higashiyama D, Saitsu H, Komada M, Takigawa T, Ishibashi M, Shiota K. 2007. Sequential developmental changes in holoprosencephalic mouse embryos exposed to ethanol during the gastrulation period. Birth Defects Res A Clin Mol Teratol 79:513-523.
29. Holmes LB, Harvey EA. 1994. Holoprosencephaly and the teratogenicity of anticonvulsants. Teratology 49:82.
30. Hovhannisyan A, Matz M, Gebhardt R. 2009. From teratogens to potential therapeutics: Natural inhibitors of the hedgehog signaling network come of age. Planta Med. 75: 1371-1380.
31. Incardona JP, Roelink H. 2000. The role of cholesterol in Shh signaling and teratogen-induced holoprosencephaly. Cell Mol Life Sci 57:1709-1719.
32. Kallen BA. 2005. Methodological issues in the epidemiological study of the teratogenicity of drugs. Congenit Anom (Kyoto) 45:44-51.
33. Kallen B, Castilla EE, Lancaster PA, Mutchinick O, Knudsen LB, Martinez-Frias ML, Mastroiacovo P, Robert E. 1992. The cyclops and the mermaid: An epidemiological study of two types of rare malformation. J Med Genet 29:30-35.
34. Kalter H. 1992. Cyclopia produced in a very early retinoic acid experiment. Teratology 46: 207-208.
35. Keller K, McCune H, Williams C, Muenke M. 2000. Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. Am J Med Genet 95:187-188.
36. Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M. 1996. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 66:478-484.
37. Khudr G, Olding L. 1973. Cyclopia. Am J Dis Child 125:120-122.
38. Kilic N, Yazici Z. 2005. A case of holoprosencephaly and cebocephaly associated to torch infection. Int J Pediatr Otorhinolaryngol 69:1275-1278.
39. Kolf-Clauw M, Chevy F, Siliart B, Wolf C, Mulliez N, Roux C. 1997. Cholesterol biosynthesis inhibited by BM15.766 induces holoprosencephaly in the rat. Teratology 56: 188-200.
40. Kotzot D, Weigl J, Huk W, Rott HD. 1993. Hydantoin syndrome with holoprosencephaly: A possible rare teratogenic effect. Teratology 48:15-19.
41. Kousseff BG. 1999. Diabetic embryopathy. Curr Opin Pediatr 11:348-352.
42. Koyama N, Komori S, Bessho T, Koyama K, Hiraumi Y, Maeda Y. 1996. Holoprosencephaly in a fetus with maternal medication of sulfasalazine in early gestation. A case report. Clin Exp Obstet Gynecol 23:136-140.
43. Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Fernhoff PM, Grix AWJr, Lott IT, et al. 1985. Retinoic acid embryopathy. N Engl J Med 313:837-841.
44. Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Prieto L, Frias JL. 1998. Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers. Am J Med Genet 78:140-145.
45. Matsunaga E, Shiota K. 1977. Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16:261-272.
46. Miller EA, Rasmussen SA, Siega-Riz AM, Frias JL, Honein MA, The National Birth Defects Prevention Study. 2010. Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study. Am J Med Genet Part C Semin Med Genet 154C:62-72.
47. Ming JE, Muenke M. 2002. Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly. Am J Hum Genet 71:1017-1032.
48. Muenke M, Gropman A. 2008. Holoprosencephaly overview, GeneReviews, URL: http://www.ncbi.nlm.nih.gov/bookshelf/br. fcgi?book=gene&part=hpe-overview [accessed October 14, 2009].
49. Munke M, Emanuel BS, Zackai EH. 1988. Holoprosencephaly: Association with interstitial deletion of 2p and review of the cytogenetic literature. Am J Med Genet 30:929-938.
50. Odent S, Le Marec B, Munnich A, Le Merrer M, Bonaiti-Pellie C. 1998. Segregation analysis in nonsyndromic holoprosencephaly. Am J Med Genet 77:139-143.
51. Olsen CL, Hughes JP, Youngblood LG, Sharpe-Stimac M. 1997. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. Am J Med Genet 73:217-226.
52. Ong S, Tonks A, Woodward ER, Wyldes MP, Kilby MD. 2007. An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004. Prenat Diagn 27:340-347.
53. Orioli IM, Castilla EE. 2007. Clinical epidemiologic study of holoprosencephaly in South America. Am J Med Genet Part A 143A:3088-3099.
54. Ornoy A. 2007. Embryonic oxidative stress as a mechanism of teratogenesis with special emphasis on diabetic embryopathy. Reprod Toxicol 24:31-41.
55. Padmanabhan R, Shafiullah M. 2004. Effect of maternal diabetes and ethanol interactions on embryo development in the mouse. Mol Cell Biochem 261:43-56.
56. Petersen EE, Mitchell AA, Carey JC,Werler MM, Louik C, Rasmussen SA. 2008. Maternal exposure to statins and risk for birth defects: A case-series approach. Am J Med Genet Part A 146A:2701-2705.
57. Platt MJ, Stanisstreet M, Casson IF, Howard CV, Walkinshaw S, Pennycook S, McKendrick O. 2002. St Vincent's Declaration 10 years on: Outcomes of diabetic pregnancies. Diabet Med 19:216-220.
58. Rasmussen SA, Moore CA, Khoury MJ, Cordero JF. 1996. Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992. Am J Med Genet 66:320-333.
59. Rasmussen SA, Olney RS, Holmes LB, Lin AE, Keppler-Noreuil KM, Moore CA. 2003. Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol 67:193-201.
60. Rasmussen SA, Hayes EB, Jamieson DJ, O'Leary DR. 2007. Emerging infections and pregnancy: Assessing the impact on the embryo or fetus. Am J Med Genet Part A 143A:2896-2903.
61. Ray JG, O'Brien TE, Chan WS. 2001. Preconception care and the risk of congenital anomalies in the offspring of women with diabetes mellitus: A meta-analysis. Q J Med 94:435-444.
62. Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD. 1975. Holoprosencephaly: Birth data, genetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser 11:294-313.
63. Roessler E, Muenke M. 2003. How a Hedgehog might see holoprosencephaly. Hum Mol Genet 12:R15-R25.
64. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. 1996. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14:357-360.
65. Ronen GM. 1992. Holoprosencephaly and maternal low-calorie weight-reducing diet. Am J Med Genet 42:139.
66. Ronen GM, Andrews WL. 1991. Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 40:151-154.
67. Rosa F. 1994. Holoprosencephaly with first trimester topical tretinoin. Teratology 49:418.
68. Rosa F. 1995. Holoprosencephaly and antiepileptic exposures. Teratology 51:230.
69. Roux C, Wolf C, Mulliez N, Gaoua W, Cormier V, Chevy F, Citadelle D. 2000. Role of cholesterol in embryonic development. Am J Clin Nutr 71:1270S-1279S.
70. Scialli AR, Buelke-Sam JL, Chambers CD, Friedman JM, Kimmel CA, Polifka JE, Tassinari MS. 2004. Communicating risks during pregnancy: Aworkshop on the use of data from animal developmental toxicity studies in pregnancy labels for drugs. Birth Defects Res A Clin Mol Teratol 70:7-12.
71. Seidahmed MZ, Shaheed MM, Abdulbasit OB, Al Dohami H, Babiker M, Abdullah MA, Abomelha AM. 2006. A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype. Birth Defects Res A Clin Mol Teratol 76:138-142.
72. Sezgin I, Sungu S, Bekar E, Cetin M, Ceran H. 2002. Cyclopia-astomia- agnathia-holoprosencephaly association: A case report. Clin Dysmorphol 11:225-226.
73. Siebert JR, Astley SJ, Clarren SK. 1991. Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol. Teratology 44:29-36.
74. Stabile M, Bianco A, Iannuzzi S, Buonocore MC, Ventruto V. 1985. A case of suspected teratogenic holoprosencephaly. J Med Genet 22:147-149.
75. Stashinko EE, Clegg NJ, Kammann HA, Sweet VT, Delgado MR, Hahn JS, Levey EB. 2004. A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. Am J Med Genet Part A 128A: 114-119.
76. Suhonen L, Hiilesmaa V, Teramo K. 2000. Glycaemic control during early pregnancy and fetal malformations in women with type I diabetes mellitus. Diabetologia 43:79-82.
77. Sulik KK, Johnston MC. 1982. Embryonic origin of holoprosencephaly: Interrelationship of the developing brain and face. Scan Electron Microsc, 1:309-322.
78. Sulik KK, Dehart DB, Rogers JM, Chernoff N. 1995. Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos. Teratology 51:398-403.
79. Tas S, Avci O. 2004. Rapid clearance of psoriatic skin lesions induced by topical cyclopamine. A preliminary proof of concept study. Dermatology 209:126-131.
80. Von Hoff DD, LoRusso PM, Rudin CM, Reddy JC, Yauch RL, Tibes R, Weiss GJ, Borad MJ, Hann CL, Brahmer JR, Mackey HM, Lum BL, Darbonne WC, Marsters JC Jr, de Sauvage FJ, Low JA. 2009. Inhibition of the hedgehog pathway in advanced basal-cell carcinoma. N Engl J Med 361:1164-1172.
81. Webster WS, Walsh DA, McEwen SE, Lipson AH. 1983. Some teratogenic properties of ethanol and acetaldehyde in C57BL/6J mice: Implications for the study of the fetal alcohol syndrome. Teratology 27:231-243.
82. Welch KD, Panter KE, Lee ST, Gardner DR, Stegelmeier BL, Cook D. 2009. Cyclopamine-induced synophthalmia in sheep: Defining a critical window and toxicokinetic evaluation. J Appl Toxicol 29:414-421.
83. Whiteford ML, Tolmie JL. 1996. Holoprosencephaly in the west of Scotland 1975-1994. J Med Genet 33:578-584.
84. Yoon PW, Rasmussen SA, Lynberg MC, Moore CA, Anderka M, Carmichael SL, Costa P, Druschel C, Hobbs CA, Romitti PA, Langlois PH, Edmonds LD. 2001. The National Birth Defects Prevention Study. Public Health Rep 116:32-40.