Chondrodysplasia Punctata

Abstract

Chondrodysplasia punctata has a number of synonyms, including Chondrodystrophia punctata, stippled epiphyses, Chondrodystrophia calcificans congenita, and dysplasia epiphysealis punctata. The disorder is now conventionally subdivided into the potentially lethal rhizomelic autosomal recessive type and the more benign, autosomal dominant Conradi-Hünermann form (Spranger et al., 1971). An X-linked dominant variety of the latter has recently been reported and there is certainly residual heterogeneity. Chondrodysplasia punctata may also be classified in the following way:

• 1. Rhizomelic type—autosomal recessive

• 2. Conradi-Hünermann type—autosomal dominant and X-linked dominant forms

• 3. Other types

Stippling of the epiphyses is also a feature of many other unrelated disorders, including:

• Multiple epiphyseal dysplasia

• Spondyloepiphyseal dysplasia

• Hypothyroidism

• Trisomy 18

• Trisomy 21

• Warfarin embryopathy

• Cerebrohepatorenal (Zellweger) syndrome

In all these conditions, as well as in the conventional forms of chondrodysplasia punctata, the stippling in the survivors disappears by the end of the second year of life.