期刊
FACIAL PLASTIC SURGERY CLINICS OF NORTH AMERICA
卷 24, 期 4, 页码 405-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.fsc.2016.06.001
关键词
Genetic evaluation; Genetic counseling; Family history; Teratogens; Dysmorphology; Genetic testing; Cleft lip; Cleft palate
类别
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.
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