chondrodysplasia punctata/asthenia

We present a male autopsied case of chondrodysplasia punctata with abnormal face, symmetrical proximal limb shortness, severe psychomotor developmental delay, respiratory muscle weakness, and death at the age of 2 years. Although his clinical manifestations were similar to those of rhizomelic

OBJECTIVE Chondrodysplasia punctata (CDP) is a group of skeletal dysplasias manifesting with progressive cervical instability that leads to neurological deficits and eventual death. The major clinical features of CDP also present in a phenocopy known as coumarin embryopathy (CE) which results from

Six patients with skeletal dysplasias complicated by deformity or instability of the cervical spine were reviewed. Three patients had congenital spondyloepiphyseal dysplasia and 1 each suffered from Morquio's syndrome, pseudoachondroplasia, and chondrodystrophia calcificans congenita. Four patients