Diagnostic Practice and the Estimated Prevalence of Craniosynostosis in Colorado

The role of 18F‐fluorodeoxyglucose–positron emission tomography in the assessment of disease activity in patients with Takayasu arteritis

“…Our results agreed with reported diagnostic variability affecting cardiovascular malformations [e.g., Grech, 1999], especially VSD [Martin et al, 1989; Wilson et al, 1993; Tikkanoja, 1995], ASD [Khoury and Erickson, 1992], and patent ductus arteriosus (PDA) [Khoury and Erickson, 1992; Tikkanoja, 1995]. Susceptibility to diagnostic variability has also been reported for craniosynostosis [e.g., Alderman et al, 1997], which we found to have middle rated variability. However, hypospadias, also deemed susceptible to diagnostic variability [e.g., Toppari et al, 2001] in the literature, was in the fairly low variability quintile in our study.…”

Craniosynostosis in Western Australia, 1980-1994: A population-based study

“…The birth prevalence of craniosynostosis in Western Australia was 5.06 per 10,000 births, lower than that seen in other population-based studies: 14.1 per 10,000 in Colorado [Alderman et al, 1997]; 8.1 per 10,000 in New South Wales (NSW) [Taylor and Tooth, 1993]; 6.0 per 10,000 in Israel, based on 18 cases [Shuper et al, 1985]; and 3.0 per 10,000 in Minnesota (22 cases) [French et al, 1990]. Some of these differences may be due to variations in methods and completeness of ascertainment, and accuracy of case definition.…”

“…Some of these differences may be due to variations in methods and completeness of ascertainment, and accuracy of case definition. For example, in the Colorado study, only 51% of children had definite radiological evidence of synostosis [Alderman et al, 1997]. In contrast, in this study, of the 170 cases with craniosynostosis, 141 (82.9%) had clinical, radiographic, and surgical confirmation of the condition.…”

“…No association with maternal or paternal age was documented in the NSW or more recent Colorado studies [Alderman et al, 1997;Taylor and Tooth, 1993], although the earlier Colorado study [Alderman et al, 1988] found an increased risk of craniostenosis with increasing maternal and paternal age. Lajeunie et al [1995] found a significantly increased average paternal age for individuals with nonsyndromic coronal craniosynostosis.…”

Using registry data to suggest which birth defects may be more susceptible to artifactual clusters and trends

“…Obstructive genitourinary defects, due largely to congenital hydronephrosis with its own diagnostic issues (Fernbach et al, 1993;Sairam et al, 2001), exhibited a medium-high prevalence variability score here (4.17). However, craniosynostosis, reported to be variable in the literature (French et al, 1990;Alderman et al, 1997), received a low-midrange variability score here (2.83).…”