Here we present the analysis of deformations observed in a series of 26,810 consecutive infants with congenital defects. We observed that 3.88% of these infants had deformations, for a prevalence figure of 0.07% live-born infants. From the present study we can conclude that there are three different
Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects
✍ Scribed by Mart�nez-Fr�as, M.L.; Bermejo, E.; Fr�as, J.L.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 39 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000131)90:3<246::aid-ajmg12>3.0.co;2-q
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✦ Synopsis
We studied a series of 27,145 consecutive infants with congenital defects and classified them into the currently recognized pathogenetic types of errors of morphogenesis, as defined by the International Working Group [Spranger et al., 1982: J Pediatrics 1:160-165]. Of all infants with congenital defects, 97.94% had malformations, 3.92% deformations, and 1.65% disruptions. Malformations associated with deformations were present in 3.12% of children with congenital anomalies, malformations with disruptions in 0.18%, deformations with disruptions in 0.07%, and malformations with deformations and disruptions in 0.14%. While deformations, including deformation sequences, were 2.38 times more common than disruptions and disruption sequences, isolated disruptions (1.27%) were more frequent than isolated deformations (0.59%). Knowledge of the frequencies of the different types of errors of morphogenesis (malformations, deformations, disruptions, developmental field defects, associations, complexes, unrecognized patterns of multiple congenital anomaly, and syndromes) may be of great value in the evaluation of patients with congenital anomalies.
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Table ), using the proposed definitions (Table ). This proposed classification was tested on examples provided by several of the registries of congenital anomalies participating in the study of limb deficiencies. All examples fit well into the proposed classification.
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**"A total time machine --I loved it." --Maria Semple, _New York Times_ bestselling author of _Where'd You Go Bernadette_ One of _Harper's Bazaar_ 's Best Summer Books to Read in 2020 A daringly honest, sexy debut novel about three young women coming of age in 1980s New England and New York--a