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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Jan;29(1):30–35. doi: 10.1136/jmg.29.1.30

The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

B Källén 1, E E Castilla 1, P A Lancaster 1, O Mutchinick 1, L B Knudsen 1, M L Martínez-Frías 1, P Mastroiacovo 1, E Robert 1
PMCID: PMC1015818  PMID: 1552541

Abstract

Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is somewhat increased for cyclopia, indicating the likely inclusion of some chromosomally abnormal infants which were not identified. About half of the infants are stillborn. There is a female excess among infants with cyclopia. Excess twinning occurred for cyclopia and possibly also for sirenomelia. An analysis of associated malformations indicates the similarity between the two conditions, which is in agreement with recent embryological analysis.

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Selected References

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  1. Barr M., Jr, Hanson J. W., Currey K., Sharp S., Toriello H., Schmickel R. D., Wilson G. N. Holoprosencephaly in infants of diabetic mothers. J Pediatr. 1983 Apr;102(4):565–568. doi: 10.1016/s0022-3476(83)80185-1. [DOI] [PubMed] [Google Scholar]
  2. Bernuzzi V., Desor D., Lehr P. R. Developmental alternations in offspring of female rats orally intoxicated by aluminum chloride or lactate during gestation. Teratology. 1989 Jul;40(1):21–27. doi: 10.1002/tera.1420400104. [DOI] [PubMed] [Google Scholar]
  3. Källén B. Population surveillance of multimalformed infants. Experience with the Swedish Registry of Congenital Malformations. Second part. J Genet Hum. 1987 Dec;35(5):321–338. [PubMed] [Google Scholar]
  4. Källén B., Winberg J. A Swedish register of congenital malformations. Experience with continuous registration during 2 years with special reference to multiple malformations. Pediatrics. 1968 Apr;41(4):765–776. [PubMed] [Google Scholar]
  5. Källén B., Winberg J. Caudal mesoderm pattern of anomalies: from renal agenesis to sirenomelia. Teratology. 1974 Feb;9(1):99–111. doi: 10.1002/tera.1420090113. [DOI] [PubMed] [Google Scholar]
  6. Lancaster P. A. Health registers for congenital malformations and in vitro fertilization. Clin Reprod Fertil. 1986 Feb;4(1):27–37. [PubMed] [Google Scholar]
  7. Martínez-Frías M. L., Salvador J., Prieto L., Zaplana J. Epidemiological study of gastroschisis and omphalocele in Spain. Teratology. 1984 Jun;29(3):377–382. doi: 10.1002/tera.1420290308. [DOI] [PubMed] [Google Scholar]
  8. Ming P. M., Goodner D. M., Park T. S. Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature. Am J Dis Child. 1976 Aug;130(8):864–867. doi: 10.1001/archpedi.1976.02120090074014. [DOI] [PubMed] [Google Scholar]
  9. Mutchinick O., Lisker R., Babinski V. Programa Mexicano de "Registro y Vigilancia Epidemiológica de Malformaciones Congénitas Externas". Salud Publica Mex. 1988 Jan-Feb;30(1):88–100. [PubMed] [Google Scholar]
  10. Nora A. H., Nora J. J. A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch Environ Health. 1975 Jan;30(1):17–21. doi: 10.1080/00039896.1975.10666626. [DOI] [PubMed] [Google Scholar]
  11. O'Rahilly R., Müller F. Interpretation of some median anomalies as illustrated by cyclopia and symmelia. Teratology. 1989 Nov;40(5):409–421. doi: 10.1002/tera.1420400502. [DOI] [PubMed] [Google Scholar]
  12. Passarge E., Lenz W. Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics. 1966 Apr;37(4):672–675. [PubMed] [Google Scholar]
  13. Quan L., Smith D. W. The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediatr. 1973 Jan;82(1):104–107. doi: 10.1016/s0022-3476(73)80024-1. [DOI] [PubMed] [Google Scholar]
  14. Robert E., Francannet C., Robert J. M. Le registre de malfromations de la région Rhône-Alpes/Auvergne. Intéret et limites de la tératovigilance. Onze ammées d'experience (1976-1986). J Gynecol Obstet Biol Reprod (Paris) 1988;17(5):601–607. [PubMed] [Google Scholar]

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