
pmid: 27712809
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.
Craniofacial Abnormalities, Pregnancy, Prenatal Diagnosis, Humans, Female, Genetic Counseling, Genetic Testing, Medical History Taking, Physical Examination
Craniofacial Abnormalities, Pregnancy, Prenatal Diagnosis, Humans, Female, Genetic Counseling, Genetic Testing, Medical History Taking, Physical Examination
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