Clinical epidemiologic study of holoprosencephaly in South America

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 3088-3099

  Orioli, Iêda M ^a   Castilla, Eduardo E ^b,c  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b INSTITUTO OSWALDO CRUZ   (Brazil)

^c CEMIC   (Argentina)

Author keywords

Alobar; Associated anomalies; Case control analysis; Cebocephaly; Cleft lip and palate; Cohort analysis; Cyclopia; Ethmocephaly; Isolated cleft palate; Isolated median cleft lip; Lobar; Material diabetes; Maternal flu; Premaxillary agenesis; Semilobar; Syndromes

Indexed keywords

BRAIN DAMAGE; CHROMOSOME ABERRATION; CLINICAL FEATURE; CLINICAL STUDY; CONFERENCE PAPER; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; FACE MALFORMATION; FEMALE; HISTOPATHOLOGY; HOLOPROSENCEPHALY; HUMAN; LIVE BIRTH; MAJOR CLINICAL STUDY; MALE; NEWBORN; PHENOTYPE; PREGNANCY OUTCOME; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR;

CASE-CONTROL STUDIES; CLEFT LIP; COHORT STUDIES; CONGENITAL ABNORMALITIES; ENVIRONMENTAL EXPOSURE; EYE ABNORMALITIES; FEMALE; HOLOPROSENCEPHALY; HUMANS; MALE; ODDS RATIO; PREVALENCE; RISK FACTORS; SEX FACTORS; SOUTH AMERICA; SYNDROME;

EID: 37249011845     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32104     Document Type: Conference Paper

References (33)

1. Benke PJ, Cohen MM Jr. 1983. Recurrence of holoprosencephaly in families with a positive history. Clin Genet 24:324-328.
2. 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.
3. Castilla EE, Orioli IM. 2004. ECLAMC: The Latin-American collaborative study of congenital malformations. Community Genet 7:76-94.
4. Chen CP, Chern SR, Lin CJ, Lee CC, Wang W, Tzen CY. 2005. A comparison of maternal age, sex ratio and associated anomalies among numerically aneuploid, stmcturally aneuploid and euploid holoprosencephaly. Genet Couns 16:49-57.
5. Cohen MM Jr. 1989a. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 40:211-235.
6. Cohen MM Jr. 1989b. Perspectives on holoprosencephsly. Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-288.
7. Cohen MM Jr. 2001. Problems in the definition of holoprosencephaly. Am J Med Genet 103:183-187.
8. Cohen MM Jr. 2003. The hedgehog signaling network. Am J Med Genet Part A 123A:5-28.
9. Cohen MM Jr. 2006. Holoprosencephaly: Clinical, anatomic, and molecular dimensions. Birth Defects Res (Part A) 76:658-673.
10. Cohen MM Jr, Gorlin RJ. 1969. Genetic implications of a sibship of cyclopia and clefts. Birth Defects Orig Art Ser 5:113-118.
11. Cohen MM Jr, Shiota K. 2002. Teratogenesis of holoprosencephaly. Am J Med Genet 109:1-15.
12. Cohen MM Jr, Jirasek JE, Guzman RT, Gorlin RJ, Peterson MQ. 1971. Holoprosencephaly and facial dysmorphia: Nosology, etiology, and pathogenesis. Birth Defects: Orig Art Ser 7:125-135.
13. Croen LA, Shaw GM, Lammer EJ. 1996. Holoprosencephaly: Epidemiologic and clinical characteristics of a California population. Am J Med Genet 64:465-472.
14. 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.
15. DeMyer WE. 1977. Holoprosencephaly (cyclopia-arhinencephaly). In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology. Amsterdam: North Holland Publishing Company. pp 431-478.
16. DeMyer W, Zeman W, Palmer CG. 1964. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256-263.
17. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. 2007. Holoprosencephaly. Orphanet J Rare Dis 2:8.
18. Hockey A, Crowhurst J, Cullity G. 1988. Microcephaly, holoprosencephaly, hypokinesia-Second report of a new syndrome. Prenat Diagn 8:683-686.
19. Källen B. 1987. Population surveillance of multimalformed infants-experience with the Swedish Registry of Congenital Malformations. First part. J Genet Hum 35:205-215.
20. Källén 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.
21. Lopez-Camelo JS, Orioli IM. 1996. Heterogeneous rates for birth defects in Latin America: Hints on causality. Genet Epidemiol 13:469-481.
22. Mastroiacovo P, Botto LD, Cavalcanti DP, Zampino G, Serafini MA. 1992. Epidemiological and genetic study of holoprosencephaly in 106 cases observed in the Itralian Multicentric Registry 1978-1989. Paper presented at proceedings of the 1st international meeting of the genetic and reproductive epidemiology research society (GRERS), Roma.
23. Matsunaga E, Shiota K. 1977. Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16:261-272.
24. Morse RP, Rawnsley E, Sargent SK, Graham JM Jr. 1987. Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia. Prenat Diagn 7:631-638.
25. Myrianthopoulos NC, Chung CS. 1974. Congenital malformations in singletons: Epidemiologic survey. Report from the Collaborative Perinatal project. Birth Defects Orig Art Ser 10:1-58.
26. 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.
27. 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.
28. 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.
29. Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD. 1975. Holoprosencephaly: Birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser 11:294-313.
30. Saldarriaga W, Isaza C, Mastroiacovo P, Castilla EE. 2007. Ciclopia en el Hospital Universitario del Valle (Cali, Colombia). Reporte de cuatro casos nacidos y revisión de la literatura. Re vista Colombiana de Obstetricia y Ginecología 58:58-65.
31. Saunders ES, Shortland D, Dunn PM. 1984. What is the incidence of holoprosencephaly? J Med Genet 21:21-26.
32. Urioste M, Valcarcel E, Gomez MA, Pinel I, Garcia de Leon R, Diaz de Bustamante A, Tebar R, Martinez-Frias ML. 1988. Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother. Am J Med Genet 30:925-928.
33. Whiteford ML, Tolmie JL. 1996. Holoprosencephaly in the west of Scotland 1975-1994. J Med Genet 33:578-584.