A more extensive cleft seems to be associated with a higher risk for associated malformations. Although many associated congenital defects can be detected at a physical examination, the high prevalence of congenital heart disease (16 times that of general population) may justify a routine echocardiographic screening.
Objective and Methods Children with cleft lip and/or palate (n = 251) born between 1991 and 1995 in the county of Stockholm, Sweden, were studied with reference to incidence and rate ratios (RRs) of different types of clefts, gender, birth weight, mother's age, and length of pregnancy. Children who had clefts and additional malformations were compared with children who had clefts but no additional malformations. Results The incidence of clefts was 2.0/1000 live births, and it was higher among males than among females. The RR, an index of relative risk, was 1.58. The main groups, children with isolated cleft lip, children with cleft lip and palate, and children with isolated cleft palate, showed similar incidence values (0.6-0.7/1000 live births). Children with bilateral clefts had an incidence of 0.3/1000 live births. Additional malformations were found in approximately every sixth newborn with a cleft when children with Robin sequence were excluded. There was a tendency for newborns with bilateral clefts to have additional malformations (RR = 1.36; confidence interval = 0.74-2.49). Children with clefts and additional malformations had lower birth weight and were born earlier than children with clefts only. Conclusion Preterm cleft children with low birth weight should be screened for the presence of other birth defects.
The aim of this study was to characterize Swedish families with non-syndromic cleft lip and/or palate (NSCL/P) for mutations or other sequence variants in the interferon regulatory factor 6 (IRF6) gene, as well as to describe their cleft phenotypes and hypodontia. Seventeen Swedish families with at least two family members with NSCL/P were identified and clinically evaluated. Extracted DNA from blood samples was used for IRF6 mutation screening. Exonic fragments of the IRF6 gene were sequenced and chromatograms were inspected. Statistical analysis was undertaken with marker- and haplotype association tests. No disease-associated IRF6 mutation could be determined in the families analyzed. One new and seven known single nucleotide polymorphisms (SNPs) were detected. The A allele of SNP rs861019 in exon 2 and the G allele of SNP rs7552506 in intron 3 showed association with cleft lip and palate (CLP; odds ratios of 3.1 and 5.45, respectively). Hypodontia was observed more commonly in individuals affected with CL/P as compared with family members without a cleft (P < 0.01). The hypodontia most often affected the cleft area, possibly representing a secondary effect. The distribution of cleft phenotypes in 15 of the 17 families with NSCL/P differed from the mixed cleft types seen in Van der Woude syndrome (VWS), in that CLP did not occur together with an isolated cleft palate within the same family. It was concluded that mutations of the IRF6 gene are not a common cause for cleft predisposition in Swedish NSCL/P families.
The MIT(mr) surgery technique was not significantly superior to the MIT technique regarding speech outcomes related to velopharyngeal competence, but had fewer velopharyngeal flaps, which is contradictory. Until a larger sample can be studied, we will continue to use MIT(mr) for primary palate repair.
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