Chondrodysplasia punctata

a variety of multiple epiphyseal dysplasia in which the unossified cartilaginous epiphyseal centres become calcified during the first year after birth. Five types are identified:

rhizomelic;

X-linked dominant or Conradi Hunermann syndrome;

X-linked recessive or Curry type;

Sheffield type; and

tibia-metacarpal type

In all of these types, a short-limbed dwarfism with joint contractures, skin lesions, and cataracts is seen.

Radiographically, the calcifications may have a "cluster of pearls" appearance at the ends of tubular bones (Fig.1). In some severe forms the hips and shoulders are involved primarily. Kyphoscoliosis is frequently a consequence of abnormally shaped vertebral bodies.

Secondary chondrodysplasia punctata is seen in a number of syndromes (Table 1).

Chondrodysplasia punctata, Table 1. Syndromes associated with secondary chondrodysplasia punctata.

Zellwegers syndrome
Embryopathies (warfarin, phenytoin, alcohol)
Rubella infection
Vitamin K epoxide reductase deficiency
Trisomy 18 syndrome and Trisomy 21 syndrome
multiple epiphyseal dysplasia (in rare pedigrees)