Two pairs of brothers suffered respiratory distress in the newborn period because their ribs were abnormally short. The diagnostic radiological features of metaphyseal chondrodysplasia appeared only in the second year. Pancreatic insufficiency and neutropenia were present. One died of overwhelming infection and his brother survived a life-threatening episode of gangrenous proctitis.

Type X collagen is a homotrimer of alpha 1 (X) chains encoded by the COL10A1 gene. It is synthesised specifically and transiently by hypertrophic chondrocytes at sites of endochondral ossification. Point mutations and deletions in the region of the COL10A1 gene encoding the alpha 1 (X) carboxyl-terminal (NC1) domain have previously been identified in subjects with metaphyseal chondrodysplasia t...

A brother and sister, children of normal parents are described. They had retinitis pigmentosa, causing near-blindness as a result of very narrow fields of vision, associated with metaphyseal chondrodysplasia and marked shortening of the metacarpals and terminal phalanges. Autosomal recessive inheritance is suggested with a common biochemical cause for all these defects. This apparently new asso...

Recently, there has been a proliferation of studies investigating the relationship between diversity and outcomes such as social cohesion and civic mindedness. This article addresses several common problems in this field and, using data for British neighbourhoods, elaborates on the experiences of both white British and ethnic minority respondents. We conclude that, if anything, diversity should...

BACKGROUND Clinical ethics support, in particular Moral Case Deliberation, aims to support health care providers to manage ethically difficult situations. However, there is a lack of evaluation instruments regarding outcomes of clinical ethics support in general and regarding Moral Case Deliberation (MCD) in particular. There also is a lack of clarity and consensuses regarding which MCD outcome...

Schmid metaphyseal chondrodysplasia results from mutations within the COOH-terminal globular domain (NC1) of type X collagen, a short chain collagen expressed in the hypertrophic region of the growth plate cartilage. Previous in vitro studies have proposed that mutations prevent the association of the NC1 domain of constituent chains of the trimer based upon a lack of formation of a trimeric st...

Endochondral bone development is a fascinating story of proliferation, maturation, and death. An understanding of this process at the molecular level is emerging. In particular, significant advances have been made in understanding the role of parathyroid-hormone-related peptide (PTHrP), parathyroid hormone (PTH), and the PTH/PTHrP receptor in endochondral bone development. Mutations of the PTH/...