Genetic study of scaphocephaly

✍ Scribed by Lajeunie, Elizabeth; Le Merrer, Martine; Bonaïti-Pellie, Catherine; Marchac, Daniel; Renier, Dominique

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 25 KB
• Volume: 62
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960329)62:3<282::aid-ajmg15>3.0.co;2-g

✦ Synopsis

From a series of 1,408 patients with craniosynostosis hospitalized between 1976 and 1994,561 probands with non-syndromal isolated sagittal synostosis were analyzed. The prevalence of sagittal synostosis was estimated in the order of 1 in 5,000 children. Family information was obtained from 373 probands distributed among 366 families. The ma1e:female ratio was 3.5:l. There was no maternal or paternal age effect. In 22 of the 366 pedigrees, a high degree of familial aggregation was observed, giving a 6% figure of familial cases. Segregation analysis of 253 families indicates that sagittal synostosis is transmitted as a dominant disorder with 38% penetrance and 72% of sporadic cases. The frequency of twinning was 4.8% with only 1 concordance for sagittal synostosis in a monozygotic twin pair. The possibility of a mechanical pathogenesis in sporadic cases is discussed.