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

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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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Authors and Affiliations

  1. Latium Musculoskeletal Tissue Bank, Rome, Italy

    Wanda Lattanzi & Fabrizio Michetti

  2. Institute of Anatomy and Cell Biology, Università Cattolica S. Cuore, L.go Vito, 1, Rome, Italy

    Marta Barba, Camilla Bernardini & Fabrizio Michetti

  3. Department of Clinical Pathology, Section of Cytogenetics and Molecular Biology, Azienda Ospedaliera-Universitaria Ospedali Riuniti di Foggia, Viale Pinto 2, Foggia, Italy

    Nenad Bukvic

  4. Department of Neurosciences, Institute of Neurosurgery, A. Gemelli Hospital, L.go Gemelli 8, Rome, Italy

    Gianpiero Tamburrini & Concezio Di Rocco

  5. Istituto di Anatomia Umana e Biologia Cellulare, Università Cattolica del Sacro Cuore, Largo F. Vito, 1, 00168, Rome, Italy

    Wanda Lattanzi

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  2. Nenad Bukvic
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  3. Marta Barba
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  4. Gianpiero Tamburrini
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  5. Camilla Bernardini
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  6. Fabrizio Michetti
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  7. Concezio Di Rocco
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Correspondence to Wanda Lattanzi.

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Lattanzi, W., Bukvic, N., Barba, M. et al. Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications. Childs Nerv Syst 28, 1301–1310 (2012). https://doi.org/10.1007/s00381-012-1781-1

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  • DOI: https://doi.org/10.1007/s00381-012-1781-1

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