Trisomy 13 (Patau Syndrome) and Craniosynostosis

摘要

Trisomy 13 or Patau syndrQme is considered a rare chromosomal disease. It was first described by Patau et al. [1960] and its prevalence ranges from 1 to 5,000-12,000 births. It is clinical characterized by multiple malformations, involving especially the face, heart, and limbs, besides a very limited survival [Jones, 2006; Pont et al., 2006; Carey, 2010], Despite the great variability of the clinical picture presented by the syndrome, craniosysnostosis seems to be a feature uncommonly described among these patients [Mankinen and Sears, 1976; Sullivan et al., 1990; Unal et al., 2009; Aypar et al., 2011].