title: Clinical and Genomic Approaches for the Diagnosis of Craniofacial Disorders.
abstract: With the rapid development of readily accessible molecular diagnostic tools, a growing number of patients and families with craniofacial anomalies will have access to a confirmed molecular diagnosis. This chapter provides an overview to current clinical and molecular resources and approaches used by diagnostician today. Clarifying the underlying cause of a congenital defect is necessary to provide proper counseling, identify carrier/risk status of family members, inform prognosis and direct appropriate management, treatments, and surveillance recommendations. The use of molecular testing has evolved to confirm a suspected clinical diagnosis, establish a diagnosis in an unclear condition and end a diagnostic odyssey for many children with underlying syndromes, but the use of these techniques to understand common nonsyndromic malformations like clefts and craniosynostosis is still an active area of research that will contribute to clinical care in the future.
authors.affiliation: Director of Craniofacial Genetics, Children's Hospital Los Angeles, Los Angeles, California, USA; Assistant Professor of Clinical Pediatrics, University of Southern California, Los Angeles, California, USA; Assistant Professor of Clinical Pathology, University of Southern California, Los Angeles, California, USA; Research Instructor Center for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry, University of Southern California, Los Angeles, California, USA. Electronic address: pasanchez@chla.usc.edu.
authors.forename: Pedro A
authors.initials: PA
authors.lastname: Sanchez-Lara
mesh_terms: D002648:Child; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D056726:Genetic Association Studies / Q000379:methods; D005817:Genetic Counseling / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods*; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D057089:Pathology, Molecular / Q000379:methods*
keywords: Chromosomal microarray; Clinical evaluation; Craniofacial; Diagnostic approach; Dysmorphology; Genomic; Molecular testing; Next-generation sequencing; Panel-based testing; Whole-exome and whole-genome sequencing