Hypochondrogenesis

We describe the successful prenatal diagnosis of hypochondrogenesis by MRI. Fetal MR findings were the presence of a conspicuous… (More)

We present a case of lethal dysplasia in the neonatal period. The abnormality was suspected after ultrasonography of a pregnant… (More)

The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The… (More)

The expression of type I, II and III collagens genes was examined in human normal and hypochondrogenesis cartilage canals… (More)

The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and… (More)

A subtle mutation in the type II collagen gene COL2A1 was detected in a case of human hypochondrogenesis by using a chondrocyte… (More)

Hypochondrogenesis is one of non-viable skeleton dysplasiae which recently has been delimited as an entity of its own and with… (More)

We have extended the study of a mild case of type II achondrogenesis-hypochondrogenesis to include biochemical analyses of… (More)

In the classification of lethal osteochondrodysplasias, achondrogenesis and hypochondrogenesis have recently received special… (More)

Three clinicopathological observations of a mild form of type II achondrogenesis are presented. The cases were selected from a… (More)