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Curr Top Dev Biol. 2015;115:459-92. doi: 10.1016/bs.ctdb.2015.07.003. Epub 2015 Oct 6.

From Bench to Bedside and Back: Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models.

Author information

1
Program in Craniofacial Biology, University of California San Francisco, San Francisco, California, USA; Department of Orofacial Sciences, University of California San Francisco, San Francisco, California, USA.
2
Program in Craniofacial Biology, University of California San Francisco, San Francisco, California, USA; Department of Cell and Tissue Biology, University of California San Francisco, San Francisco, California, USA; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA. Electronic address: jeffrey.bush@ucsf.edu.
3
Program in Craniofacial Biology, University of California San Francisco, San Francisco, California, USA; Department of Orofacial Sciences, University of California San Francisco, San Francisco, California, USA; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA. Electronic address: ophir.klein@ucsf.edu.

Abstract

Craniofacial anomalies are among the most common birth defects and are associated with increased mortality and, in many cases, the need for lifelong treatment. Over the past few decades, dramatic advances in the surgical and medical care of these patients have led to marked improvements in patient outcomes. However, none of the treatments currently in clinical use address the underlying molecular causes of these disorders. Fortunately, the field of craniofacial developmental biology provides a strong foundation for improved diagnosis and for therapies that target the genetic causes of birth defects. In this chapter, we discuss recent advances in our understanding of the embryology of craniofacial conditions, and we focus on the use of animal models to guide rational therapies anchored in genetics and biochemistry.

KEYWORDS:

Cleft lip and palate; Craniofacial anomalies; Craniosynostosis; Developmental biology; Ectodermal dysplasia; RASopathies; Treacher Collins; XLHED

PMID:
26589935
DOI:
10.1016/bs.ctdb.2015.07.003
[Indexed for MEDLINE]

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