Chondrodysplasia Punctata

 Rhizomelic & Conradi-Hünermann

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What is Chondrodysplasia? 

•   Variable extraskeletal manifestations
•   Radiographic epiphyseal stippling (dot-like engravings) in infancy from calcifications

Chondrodysplasia is the premature closure of the growth plates. When this happens, the bone continues to grow causing it to grow at a bowed direction.  This causes asymmetry of the two legs also.

What is the Rhizomelic Form?         www.netterimages.com/images

•  Consists of predominant involvement of the proximal segments (humerus, femur)
•  Marked proximal limb shortening; death during infancy
•  Autosomal recessive

The Rhizomelic Form is caused by multiple dot-like calcifications of the epiphyseal centers and can be clearly detected on radiographs.  This form of Chondrodysplasia almost always results in death shortly after birth.  Some symptoms of this dysplasia include asymmetric limb shortening, skin and eye changes (cataracts), and spinal deformity.

What is the Conradi-Hünermann Form?            European Journal of Radiology             

•    Mild asymmetric limb shortening; benign

•    Autosomal dominant or X-linked dominant

     This is a rare disorder with variable expressivity and is characterized by deforming skeletal changes with the premature epiphyseal and paravertebral calcification.  The Conradi form is associated with moderate growth deficiency, scoliosis, limb asymmetry, flexion contractures of the knee, hips and elbows, and a short neck, frontal bossing, nasal bone hypoplasia and changes in hair and skin.  Cataracts are the most common eye problems present with the Conradi Form.

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