Characteristics
Multiple punctate calcifications of dysplastic epiphyses
Cause
Enzymatic defect in peroxisomes
- causes calcification
Types
Conradi-Hunnerman
Asymmetric limb shortening
- Vertebral anomalies & Scoliosis
- Epiphyseal stippling
Stippling gone by age 4 yrs
Long bones, pelvis & vertebrae
- Epiphyses may remain irregular like Epiphyseal Dysplasia
- Skull normal
Sheffield Form
Milder form
Autosomal Recessive Form
Lethal by age 1