Cataracts of dysplasia epiphysialis punctata.

Cataracts of dysplasia epiphysialis punctata.

This rare disease of cartilage in infants has been recorded under various names since it was first described by Langhans (I893). Amongst these are chondrodystrophia calcificans congenita, chondrodystrophia punctata, stippled epiphyses, foetal epiphyseal calcinosis, chondrodystrophia calcarea, chondroangiopathia calcarea seu punctata, and chondrodystrophia hypoplastica calcinosa. Conradi (1914) ...

Cataracts of dysplasia epiphysialis punctata HUGH

This rare disease of cartilage in infants has been recorded under various names since it was first described by Langhans (I893). Amongst these are chondrodystrophia calcificans congenita, chondrodystrophia punctata, stippled epiphyses, foetal epiphyseal calcinosis, chondrodystrophia calcarea, chondroangiopathia calcarea seu punctata, and chondrodystrophia hypoplastica calcinosa. Conradi (1914) ...

Dysplasia epiphysialis punctata with ocular anomalies.

Dysplasia epiphysialis multiplex in three sisters.

A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.

An unusual osteochondrodysplasia presenting with lethal neonatal short limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia.