DYSPLASIA EPIPHYSIALIS MULTIPLEX

Dysplasia epiphysialis multiplex in three sisters.

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) ...

Dysplasia epiphysialis punctata with ocular anomalies.

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) ...

Arthrogryposis Multiplex Congenita, Epileptic Seizures and Cortical Dysplasia: a Case Report

We have presented a case of a 22-year-old patient having a rare variety of arthrogryposis multiplex congenita arthrogryposis with epileptic seizures and defect in neural migration. We have described the patient’s disease history, the clinical, and laboratory data by giving prominence to the lack of mental retardation and the late onset of the generalized tonic-clonic seizures, despite the prese...