Descriptive epidemiology of holoprosencephaly and arhinencephaly in Metropolitan Atlanta, 1968-1992

American Journal of Medical Genetics

Volumn 66, Issue 3, 1996, Pages 320-333

  Rasmussen, Sonja A ^a   Moore, Cynthia A ^b   Khoury, Muin J ^b   Cordero, José F ^c  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b NATIONAL CENTER FOR ENVIRONMENTAL HEALTH   (United States)

^c CENTERS FOR DIS CONTR AND PREV   (United States)

Author keywords

arhinencephaly; epidemiology; holoprosencephaly; surveillance

Indexed keywords

ARTICLE; FEMALE; HOLOPROSENCEPHALY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MATERNAL AGE; NEWBORN MORTALITY; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SYNDROME DELINEATION; UNITED STATES;

ABNORMALITIES, MULTIPLE; ADULT; CRANIOFACIAL ABNORMALITIES; FEMALE; GEORGIA; HOLOPROSENCEPHALY; HUMANS; INFANT; INFANT, NEWBORN; MALE; POPULATION SURVEILLANCE; PREVALENCE; SYNDROME;

PIERINAE;

EID: 0030457125     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961218)66:3<320::AID-AJMG16>3.0.CO;2-O     Document Type: Article

References (52)

1. Ahdab-Barmada M, Claassen D (1990): A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. J Neuropathol Exp Neurol 49:610-620.
2. Akimoto N, Ikeda T, Satow Y, Lee JY, Okamoto N (1986): Craniofacial and oral malformations in an autopsy population of Japanese human fetuses and newborns. J Craniofac Genet Dev Biol Suppl 2: 213-233.
3. Barr M Jr, Cohen MM Jr (1992): Alobar holoproseneephaly: When is "lethal" lethal? (abstract) Teratology 45:459.
4. Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN (1983): Holoproseneephaly in infants of diabetic mothers. J Pediatr 102:565-568.
5. Berry SM, Gosden C, Snijders RJM, Nicolaides KH (1990): Fetal holoproseneephaly: Associated malformations and chromosomal defects. Fetal Diagn Ther 5:92-99.
6. Byrne PJ, Silver MM, Gilbert JM, Cadera W, Tanswell AK (1987): Cyclopia and congenital cytomegalovirus infection. Am J Med Genet 28:61-65.
7. Chávez GF, Cordero JF, Becerra JE (1988): Leading major congenital malformations among minority groups in the United States, 1981-1986. MMWR CDC Surveill Summ 37:17-24.
8. Cohen MM Jr, Gorlin RJ (1991): Pseudo-trisomy 13 syndrome. Am J Med Genet 39:332-335.
9. Cohen MM Jr (1982): An update on the holoprosencephalic disorders. J Pediatr 101:865-869.
10. Cohen MM Jr (1989a): Perspectives on holoproseneephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 40:211-235.
11. Cohen MM Jr (1989b): Perspectives on holoproseneephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-288.
12. Cragan JD, Martin ML, Moore CA, Khoury MJ (1993): Descriptive epidemiology of small intestinal atresia, Atlanta, Georgia. Teratology 48:441-150.
13. Croen LA, Shaw GM (1995): Young maternal age and congenital malformations: A population-based study. Am J Public Health 85: 710-713.
14. Delezoide AL, Narcy F, Larroche JC (1990): Cerebral midline developmental anomalies: Spectrum and associated features. Genet Couns 1:197-210.
15. DeMyer W, Zeman W (1963): Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: Clinical, electroencephalographic, and nosologic considerations. Confin Neurol 23: 1-36.
16. DeMyer WE, Zeman W, Palmer CG (1964) The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256-263.
17. Edmonds LD, Layde PM, James LM, Flynt JW, Erickson JD, Oakley GP Jr (1981): Congenital malformations surveillance: Two American systems. Int J Epidemiol 10:247-252.
18. Emanuel I, Huang SW, Gutman LT, Yui FC, Lin CC (1972): The incidence of congenital malformations in a Chinese population. Teratology 5:159-169.
19. Epstein CJ, Seto S, Golabi M (1988): Chance vs. causality in the association of Down syndrome and holoprosencephaly. Am J Med Genet 30:939-942.
20. Fitz CR (1983): Holoprosencephaly and related entities. Neuroradiology 25:225-238.
21. Hattori H, Okuno T, Momoi T, Kataoka K, Mikawa H, Shiota K (1987): Single central maxillary incisor and holoprosencephaly. Am J Med Genet 28:483-187.
22. Hennekam RCM, van Noort G, de la Fuente AA (1991): Familial holoprosencephaly, heart defects, and polydactyly. Am J Med Genet 41:258-262.
23. Hori A, Orthner H, Kohlschütter A, Schott KM, Hirabayashi K, Shimokawa K (1980): CNS dysplasia in dysencephalia splanchnocystica (Gruber's syndrome): A case report. Acta Neuropathol Berl 51:93-97.
24. Hsia YE, Bratu M, Herbordt A (1971): Genetics of the Meckel syndrome (dysencephalia splanchnocystica). Pediatrics 48:237-247.
25. Hunter AGW, Carpenter BF (1986): Implications of malformations not due to amniotic bands in the amniotic band sequence. Am J Med Genet 24:691-700.
26. James LM (1990): "Statistical Analysis for Epidemiologic Research (SABER)." Atlanta, GA: Centers for Disease Control.
27. Jellinger K, Gross H, Kaltenbäck E, Grisold W (1981): Holoprosencephaly and agenesis of the corpus callosum: Frequency of associated malformations. Acta Neuropathol Berl 55:1-10.
28. Källén B, Castilla EE, Lancaster PAL, Mutchinick O, Knudsen LB, Martínez-Frías 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.
29. Kobori JA, Herrick MK, Urich H (1987): Arhinencephaly: The spectrum of associated malformations. Brain 110:237-260.
30. Leech RW, Shuman RM (1986): Holoprosencephaly and related midline cerebral anomalies: A review. J Child Neur 1:3-18.
31. Lurie IW, Kirillova IA, Nedzved MK, Krapiva GA (1992): Which brain defects accompany cyclopia? Genet Couns 3:127-132.
32. Lurie IW, Wulfsberg EA (1993): "Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: Expansion of the phenotypic spectrum. Am J Med Genet 47:405-409.
33. Majewski F (1981): Alcohol embryopathy: Some facts and speculations about pathogenesis. Neurobehav Toxicol Teratol 3:129-144.
34. Martínez-Frías ML (1989): Association of holoprosencephaly and Down syndrome. Am J Med Genet 32:435.
35. Martínez-Frías ML, Bermejo E, García A, Galán E, Prieto L (1994): Holoprosencephaly associated with caudal dysgenesis: A clinicalepidemiological analysis. Am J Med Genet 53:46-51.
36. Mastroiacovo P, Botto LD, Cavalcanti DP, Zampino G, Serafiní MA (1992): Epidemiological and genetic study of holoprosencephaly in 106 cases observed in the Italian multicentric registry 1978-1989. In "Proceedings of the First International Meeting of the Genetic and Reproductive Epidemiology Research Society," pp 71-82.
37. Matsunaga E, Shiota K (1977): Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16:261-272.
38. Mieden GD (1982): An anatomical study of three cases of alobar holoprosencephaly. Teratology 26:123-133.
39. Münke 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.
40. Muenke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RC, Schaefer GB, Weik L, Lubinsky MS, et al. (1994): Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci USA 91:8102-8106.
41. Nishimura H, Takano K, Tanimura T, Yasuda M, Uchida T (1966): High incidence of several malformations in the early human embryos as compared with infants. Biol Neonat 10:93-107.
42. Nivelon-Chevallier A (1982): Chondrodysplasie letale a cotes courtes type Majewski. Diagnostic in utero. Pediatric 37:453-460.
43. Opitz JM (1982): The developmental field concept in clinical genetics. J Pediatr 101:805-809.
44. Opitz JM, Howe JJ (1969): The Meckel syndrome (Dysencephalia splanchnocystica, the Gruber syndrome). New York: Alan R. Liss, Inc., for the National Foundation - March of Dimes. BD:OAS VI:167-179.
45. Pfeiffer J, Majewski F, Fishbach H, Bierich JR, Volk B (1979): Alcohol embryo- and fetopathy. Neuropathology of 3 children and 3 fetuses. J Neurol Sci 41:125-137.
46. Pi SY, Fineman RM, Wing SD, Grunnet M, Chan G (1980): Holoprosencephaly in a Down syndrome child. Am J Med Genet 5:201-206.
47. Roach E, DeMyer W, Conneally PM, Palmer C, Merritt AD (1975): Holoprosencephaly: Birth data, genetic and demographic analyses in 30 families. New York: Alan R. Liss, Inc., for the National Foundation - March of Dimes. BD:OAS XI(2):294-313.
48. Ronen GM, Andrews WL (1991): Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 40:151-154.
49. Saunders ES, Shortland D, Dunn PM (1984): What is the incidence of holoprosencephaly? J Med Genet 21:21-26.
50. Stevens CA, Moore CA, Mastroiacovo P, Botto LD, Li Z, Khoury MJ (1995): Severe ear malformations and holoprosencephaly. A non-random association. Presented at the David W. Smith meeting, Big Sky, Montana, July 1995.
51. Suslak L, Mimms GM, Desposito F (1987): Monozygosity and holoprosencephaly: Cleavage disorders of the "midline field." Am J Med Genet 28:99-102.
52. Urioste M, Valcarcel E, Gomez MA, Pinel I, Garcia de León R, Diaz de Bustamante A, Tebar R, Martínez-Frías ML (1988): Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother. Am J Med Genet 30:925-928.