Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

Abstract excerpt

Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosome Aberrations
• Share to Craniosynostoses
• Share to RUNX2 gene