clinical features
Last reviewed 01/2018
Clinical features include:
- presentation:
- boys at 4 to 7 years
- girls at 6 to 10 years
- purpura, bruising
- associated features include:
- abnormal pigmentation
- short stature
- renal malformations - pelvic kidneys
- skeletal malformations:
- radial dysplasia
- polydactyl
- syndactyly
- cliniodactyly
- onset of anaemia is insidious
- features are variable but tend to run true within a particular family