Genetic Evaluation for Craniofacial Conditions - 12/10/16
Résumé |
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.
Le texte complet de cet article est disponible en PDF.Keywords : Genetic evaluation, Genetic counseling, Family history, Teratogens, Dysmorphology, Genetic testing, Cleft lip, Cleft palate
Plan
| Disclosure: Dr H.M. Saal is a member of the Medical Advisory Board and the Speakers Bureau for Alexion Pharmaceuticals. |
Vol 24 - N° 4
P. 405-425 - novembre 2016 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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