Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

American Journal of Medical Genetics

Volumn 75, Issue 5, 1998, Pages 497-504

  Bermejo, Eva ^a   Martínez Frías, María Luisa ^a  

^a UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

Author keywords

Anophthalmia; Associations; Cataract; Clinical epidemiology; Coloboma; Congenital eye malformations; Corneal opacity; ECEMC; Glaucoma; Microphthalmia

Indexed keywords

ANOPHTHALMIA; ARTICLE; COLOBOMA; CONGENITAL CATARACT; CONGENITAL GLAUCOMA; CORNEA OPACITY; DISEASE ASSOCIATION; EYE MALFORMATION; HUMAN; MAJOR CLINICAL STUDY; MALFORMATION SYNDROME; MICROPHTHALMIA; NEWBORN; PREVALENCE; PRIORITY JOURNAL;

ANOPHTHALMOS; CASE-CONTROL STUDIES; CATARACT; COLOBOMA; CORNEAL OPACITY; EYE ABNORMALITIES; FEMALE; GLAUCOMA; HUMANS; INFANT, NEWBORN; MALE; SPAIN;

GENETTA;

EID: 0032539587     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980217)75:5<497::AID-AJMG8>3.0.CO;2-K     Document Type: Article

References (27)

1. Arroyo I, García MJ, Cimadevilla CE, Carretero V, Bermejo E, Martínez-Frías ML (1992): Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: A new entity? Am J Med Genet 43:686-687.
2. Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L (1991): Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome? Am J Med Genet 41:246-250.
3. Clementi M, Bianchi F, Calabro A, Calzolari E, Mastroiacovo PP, Spagnolo A, Tenconi R (1993): Eye malformations: An epidemiological study in a million births in Italy. In: "25th Annual Meeting of the European Society of Human Genetics. Book of Abstracts," p 45, Barcelona.
4. Cohen MM (1989): Perspectives on holoprosencephaly. Part I. Epidemiology, genetics, and syndromology. Teratology 40:211-235.
5. Coulombre A (1956): The role of intraocular pressure in the development of the chick eye. I. Control of eye size. J Exp Zool 133:211.
6. Coulombre A, Coulombre J (1964): Lens development. I. Role of the lens in eye growth. J Exp Zool 156:39.
7. Coulombre J, Coulombre A (1965): Regeneration of neural retina from the pigmented epithelium in the chick embryo. Dev Biol 12:79.
8. EUROCAT Working Group (1995): "EUROCAT report 6. Surveillance of congenital anomalies 1980-1992". Brussels: Institute of Hygiene and Epidemiology. Part 2 pp 46-55.
9. Goravalingappa JP, Nashi HK (1979): Congenital malformations in a study of 2398 consecutive births. Indian J Med Res 69:140-146.
10. Heinonen OP, Slone D, Shapiro S (1977): "Birth Defects and Drugs in Pregnancy." Littleton, MA: Publishing Sciences Group.
11. Hu DN (1987): Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet 24:584-588.
12. Jan JE, Freeman RD, Scott EP (1977): "Visual Impairment in Children and Adolescents." New York: Grune and Stratton
13. Karseras AG, Laurence KM (1975): Eyes in arhinencephalic syndromes. Br J Ophthamol 59:462.
14. Khoury MJ, James LM, Erickson JD (1990): On the measurement and interpretation of birth defect associations in epidemiologic studies. Am J Med Genet 37:229-236.
15. Martinez-Frias ML (1994): Developmental field defects and associations: Epidemiological evidence of their relationship. Am J Med Genet 49:45-51.
16. Martínez-Frías ML (1995): Primary midline developmental field. I. Clinical and epidemiological characteristics. Am J Med Genet 56:374-381.
17. Martínez-Frías ML, Frías JL, Rodríguez-Pinilla E, Urioste M, Bermejo E, Cereijo A, Gayá F (1991): Value of clinical analysis in epidemiological research: The Spanish registry experience. Am J Med Genet 41:192-195.
18. Martínez-Frías ML, Bermejo E, Sánchez Otero T, Urioste M, Morena V, Cruz E (1994): New syndrome: Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. Am J Med Genet 49:195-197.
19. McKusick VA (1994): "Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Recessive and X-Linked Phenotypes," 11th ed. Baltimore: The Johns Hopkins University Press, p 715.
20. Møllembach CJ (1947): "Medfodte defekter i øjets indre hinder." Thesis. Copenhagen: Nyt Nord. Forlag, pp 152-155 (summary in English).
21. Prieto L, Martínez-Frías ML (1996): Epidemiological analysis of the association between two congenital anomalies in the same child: A method for adjusting nonspecific clustering. Am J Med Genet 62:61-67.
22. Siebert JR, Graham JM Jr, MacDonald C (1985): Pathologic features of the CHARGE association: Support for involvement of the neural crest. Teratology 31:331-336.
23. Sjögren T, Larsson T (1949): Microphthalmos and anophthalmos with or without coincident oligophrenia. A clinical and genetic-statistical study. Acta Psychiatr Neurol Scand [Suppl] 56:1-103.
24. Stoll C, Alembik Y, Dott B, Roth MP (1992): Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet 13:179-186.
25. Warburg M (1982): Diagnostic Precision in Microphthalmos and Coloboma of Heterogeneous Origin. New York: Alan R. Liss, Inc., for the National Foundation-March of Dimes. BD:OAS 18:31-51.
26. Warburg M (1991): A update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. Ophthalmic Paediatr Genet 12:57-63.
27. Zlotogora J, Legum C, Raz J, Merin S, BenEzra D (1994): Autosomal recessive colobomatous microphthalmia. Am J Med Genet 49:261-262.