Chondrodysplasia Punctata

 

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