Genetic Evaluation for Craniofacial Conditions.

Facial plastic surgery clinics of North America

PubMedID: 27712809

Saal HM. Genetic Evaluation for Craniofacial Conditions. Facial Plast Surg Clin North Am. 2016;24(4):405-425.
There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies. More than 50% of cases of Pierre Robin sequence are syndromic and 25% of craniosynostoses are syndromic. CLINICAL
genetics evaluation is important for each patient with a craniofacial condition to make a proper diagnosis, counsel the family, and assist in management.This is an overview of the major components of the clinical genetics evaluation with a review of many syndromes associated with craniofacial disorders.