title: The cyclops and the mermaid: an epidemiological study of two types of rare malformation.
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.
authors.affiliation: Department of Embryology, University of Lund, Sweden.
authors.forename: B
authors.initials: B
authors.lastname: Källén
authors.forename: E E
authors.initials: EE
authors.lastname: Castilla
authors.forename: P A
authors.initials: PA
authors.lastname: Lancaster
authors.forename: O
authors.initials: O
authors.lastname: Mutchinick
authors.forename: L B
authors.initials: LB
authors.lastname: Knudsen
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: P
authors.initials: P
authors.lastname: Mastroiacovo
authors.forename: E
authors.initials: E
authors.lastname: Robert
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology; D009008:Abnormalities, Severe Teratoid / Q000453:epidemiology; D000328:Adult; D004200:Diseases in Twins; D004480:Ectromelia / Q000453:epidemiology*; D015981:Epidemiologic Factors; D005124:Eye Abnormalities / Q000453:epidemiology*; D005260:Female; D016142:Holoprosencephaly / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008423:Maternal Age