Coffin–Siris syndrome: Clinical description of two cases

Abstract

Abstract Coffin–Siris syndrome is a rare disorder, which can be difficult to recognize. A broad spectrum of nonspecific clinical features is associated with Coffin–Siris syndrome, and the expression of these features is diverse. We describe two cases with Coffin–Siris syndrome with mutations in the ARID1A gene, with dissimilar presentation and clinical course.

Keywords

• ARID1A gene
• brachydactyly
• Coffin–Siris syndrome
• congenital birth defects
• genetic testing