Sclerocornea - A rare manifestation of full trisomy 13

Abstract

Patau syndrome when caused by attachment of an extra chromosome with chromosome 13 is called as full trisomy 13. It is caused by nondisjunction of chromosomes during meiosis. The extra chromosome disrupts normal development, causing multiple and complex organ defects. Children with trisomy 13 are born full term, but they rarely live more than a few days or weeks. Our patient was a 1-year-old female child who presented with various typical and atypical ocular and systemic findings of full trisomy 13. Her karyotyping showed the presence of an extra copy of chromosome 13. Anterior segment dysgenesis is known to occur with Patau's syndrome, but sclerocornea as a manifestation of full trisomy 13 has not been reported prior.

Keywords

• congenital cataract
• extra chromosome
• patau's syndrome
• sclerocornea
• trisomy 13