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Published in:

01-09-2012 | Special Annual Issue

Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications

Authors: Wanda Lattanzi, Nenad Bukvic, Marta Barba, Gianpiero Tamburrini, Camilla Bernardini, Fabrizio Michetti, Concezio Di Rocco

Published in: Child's Nervous System | Issue 9/2012

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.

Aims

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.

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Title: Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications
Authors: Wanda Lattanzi
Nenad Bukvic
Marta Barba
Gianpiero Tamburrini
Camilla Bernardini
Fabrizio Michetti
Concezio Di Rocco
Publication date: 01-09-2012
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 9/2012
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-012-1781-1

At a glance: The STEP trials

Springer Medicine

Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications

Abstract

Background

Aims

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Aims

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