X-linked spondylo-epiphyseal dysplasia tarda in the Danish-Swedish farm hound.

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

RPL10 encodes ribosomal protein L10 (uL16), a highly conserved multifunctional component of the large ribosomal subunit, involved in ribosome biogenesis and function. Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A64V)) in the N-terminal domain of the protein, in a family with two affected cousins presenting with X-linked intellectual disability, cerebellar h...

Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance.

Fifteen patients with an inherited skeletal dysplasia which is considerably more crippling than the usual form of spondylo-epiphysial dysplasia tarda are presented. The disorder has a striking clinical, though not radiological, resemblance to rheumatoid arthritis but with the addition of platyspondyly. It has not previously been described, although it is possible that the case referred to by Ma...

6.4 Spondylo-epiphyseal dysplasia – a physiotherapy approach

Materials and methods A retrospective review was completed on 6 cases of SED. All physiotherapy assessments of joint range of movement, muscle strength, balance and gait were included. The physiotherapy programme included stretches to restricted joints and a progressive resisted strengthening programme (high repetitions and low resistance weights) completed into the full range of movement of mo...

Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey.

The point prevalence at birth of generalised bone dysplasias was estimated by a study of all children born between 1 January 1970 and 31 December 1983 in the county of Fyn (Denmark). Additionally the population prevalence on 31 December 1983 of all patients with generalised bone dysplasias in this county was determined. The county is a well defined, representative subregion of Denmark which dem...

An adult female with spondyloepiphyseal dysplasia tarda.