DNA ligase I deficiency

The patient had sun sensitivity and stunted growth and died at the age of 19 years with lymphoma. The patient was able to sit at 2 years and did not walk or have normal sphincter control until 3 years. Recurrent middle ear and chest infections led to poor hearing and bronchiectasis. Secondary sexual characteristics did not develop during adolescence. At the age of 17, patches of venous dilatation appeared on her skin, mainly on the limbs. There was also some telangiectasia on the bulbar conjunctivae.

Diagnostic laboratories