Clinical features
Features include:
- blueberry skin lesions in the neonate - purpuric, in 25% - pinprick lesions
- deafness in about 80%
- heart defect or patent ductus arteriosus in about 60%
- mental retardation in about 55%
- retinopathy, described as salt and pepper, in about 50%
- cataract in about 30%
- glaucoma
- microencephaly
- hepatosplenomegaly, retarded growth, thrombocytopenia
- osteitis
Related pages
Create an account to add page annotations
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.