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Vascular malformations are present at birth but may not be clinically apparent until early infancy or childhood.
In severe syndromic CTEV, other malformations are present such as spina bifida, spinal muscular atrophy, sacral agenesis, or arthrogryposis.
In around 80% of cases, additional malformations are present, and the elucidation of the genetic pathology at 16q24.1 in a significant proportion of these cases has enabled some interesting genotype phenotype correlations to be made.
In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, of which CHARGE syndrome [OMIM 214800], Feingold syndrome [OMIM 164280] and AEG syndrome [OMIM 206900] are examples; or a recognised association, of which the VACTERL association [OMIM 192350] is the best recognised.
In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, or a recognised association, of which the VACTERL association (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal and Limb malformations) is the most recognised.
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Demographic groups and audiological features are resumed in Table 2. Details of the identified cochleovestibular (inner ear) malformations are presented in Tables 3 and 4. Finally, Table 5 reports in detail the brain anomalies that were found, with the total number of cases for each type.
Associations for the remaining major congenital malformations are presented in supplement A. We performed a subanalysis of the specific congenital septal defects of the heart and their association with exposure to SSRIs and found an association between exposure to any SSRI and septal heart defects, adjusted OR 2.04 (95% CI 1.53 to 2.72) (table 2).
No congenital vascular malformations were present in this cohort.
In contrast, genital tract malformations were present in only two patients.
A number of malformations were present (Table 2), although these were individually at low frequency, as observed in NBS [Weemaes, 2000].
Overall, congenital malformations were present in 73 (6.34%) of the pregnancies in which statins were used and 31 416 (3.55%) in which they were not; the unadjusted relative risk for malformations was 1.79 (95% confidence interval 1.43 to 2.23, table 2).
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