Work

Genetic advances in craniosynostosis

Year: 2017

Type: review

Abstract: Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, that is, nonsyndromic craniosynostosis (NCS), the genetic, and environmental causes of which remain largely unknown. Recent data suggest that, at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25-30% of patients, craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways. The aim of this review is to provide a detailed and comprehensive update on the genetic and environmental factors associated with NCS, integrating the scientific findings achieved during the last decade. Focus on the neurodevelopmental, imaging, and treatment aspects of NCS is also provided.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.38159

Authors: Wanda Lattanzi, Marta Barba, Lorena Di Pietro, Simeon A. Boyadjiev

Institutions: Università Cattolica del Sacro Cuore, University of California Davis Medical Center

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute of Dental and Craniofacial Research