title: Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.
abstract: BACKGROUND
  Non syndromic craniosynostoses are the most frequent craniofacial malformations worldwide. They represent a wide and heterogeneous group of entities, in which the dysmorphism may occur in a single (simple forms) or in multiple sutures (complex forms). Simple forms present a higher birth prevalence and are classified according to the involved suture and to the corresponding abnormal cranial shape: scaphocephaly (SC; sagittal suture), trigonocephaly (TC; metopic suture), anterior plagiocephaly (unilateral coronal suture), posterior plagiocephaly (unilateral lambdoid suture). They occur commonly as sporadic forms, although a familiar recurrence is sometimes observed, suggesting a mendelian inheritance. The genetic causes of simple craniosynostosis are still largely unknown, as mutations in common craniosynostosis-associated genes and structural chromosomal aberrations have been rarely found in these cases.
  
  
  OBJECTIVE
  This review is intended to dissect comprehensively the state-of-the art on the genetic etiology of single suture craniosynostoses, in the attempt to categorize all known disease-associated genes and chromosomal aberrations. Possible genotype/phenotype correlations are discussed as useful clues towards the definition of optimized clinical management flowcharts.
authors.affiliation: Latium Musculoskeletal Tissue Bank, Rome, Italy. wanda.lattanzi@rm.unicatt.it
authors.forename: Wanda
authors.initials: W
authors.lastname: Lattanzi
authors.forename: Nenad
authors.initials: N
authors.lastname: Bukvic
authors.forename: Marta
authors.initials: M
authors.lastname: Barba
authors.forename: Gianpiero
authors.initials: G
authors.lastname: Tamburrini
authors.forename: Camilla
authors.initials: C
authors.lastname: Bernardini
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Michetti
authors.forename: Concezio
authors.initials: C
authors.lastname: Di Rocco
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics; D003393:Cranial Sutures / Q000473:pathology*; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics* / Q000601:surgery; D003582:Cytogenetics; D006801:Humans; D008957:Models, Genetic; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D051879:Twist-Related Protein 1 / Q000235:genetics
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; D009687:Nuclear Proteins; C493709:RUNX2 protein, human; D017468:Receptors, Fibroblast Growth Factor; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1