Chondrodysplasia punctata is also known as chondrodystrophia calcificans congenita or congenital stippled epiphyses. The disease variably defined as mesomelic or rhizomelic dwarfism depending on the gene transmission.
The above image is a autopsy radiograph and illustrates the lethal autosomal recessive form of the disease. The femora are shortened relative to the tibiae and fibulae. Chondrodysplasia punctata is associated with congenital cataracts, cleft palate, club feet, flexion contractures, dislocation of the hips.
The non-rhizomelic type is known as Conradi-Hunnermann disease and is nonlethal and autosomal dominant in transmission. Both forms are due to an enzymatic defect in the peroxisomes, resulting in the characteristic epiphyseal punctate calcifications seen in the disease. The incidence is approximately 1 in 100,000 births.
Some consider multiple epiphyseal dysplasia a late (tarda) form of spondyloepiphyseal dysplasia (a group of diseases including chondrodysplasia punctata) while others consider it to be a separate entity. Two forms are observed: Fairbank and Ribbing. The Fairbank form is more severe with late appearing epiphyses and more involvement of the hands and feet.
Rhizomelic limb shortening is observed. Patients tend to present later in life. Epiphyses may be fragmented and coalesce abnormally. As illustrated here, the epiphyses are irregular and lead to early and severe osteoarthritis (the left image is of a 20 year old patient). Osteotomy may be required for genu varus or valgus deformity.
REFERENCES
Bieganski T, Kozlowski K. Brachytelephalangic chondrodysplasia punctata. Australas Radiol. 1998 Aug;42(3):244-5.
Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB. Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. Neurochem Res. 1999 Apr;24(4):581-6.