title: Genetic study of scaphocephaly.
abstract: 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 male:female ratio was 3.5:1. 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.
authors.affiliation: U393 INSERM, Hôpital Necker Enfants-Malades, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Lajeunie
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: C
authors.initials: C
authors.lastname: Bonaïti-Pellie
authors.forename: D
authors.initials: D
authors.lastname: Marchac
authors.forename: D
authors.initials: D
authors.lastname: Renier
mesh_terms: D000293:Adolescent; D000328:Adult; D001724:Birth Weight; D003398:Craniosynostoses / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree