Thanatophoric dysplasia (TD) is one the most common lethal skeletal with an incidence of in 20,000. It caused by de novo mutation fibroblast growth factor receptor 3 (FGFR3) which turn leads to reduced proliferation and maturation plate chondrocytes. Two subtypes have been described. Type I typically features short long bones bowed femurs, while type II manifests straighter femurs cloverleaf sk...

To cite: Losa I, Owoeye A. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-212852 DESCRIPTION A fetal anomaly scan at 13 weeks gestation showed cystic hygroma and amnion separation. Further scans at 19 weeks revealed a ‘strawberry-shaped skull’ (figure 1). Additional findings were increased nuchal translucency, ventriculomegaly and polyhydramnios. These were...

This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), for the years 1978 to 1983, on 349 470 births (live and stillbirths), a crude prevalence rate of 2.3/10 000 was observed. However, several indications of...

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...

We welcome Sheppard's comments on our recent assessment of both ecological and geomorphic change at Diego Garcia Atoll in the central Indian Ocean [1]. Whilst our assessment incorporated numerous aspects of change, including movements of the lagoon rim shorelines, changes in the terrestrial vegetation on the lagoon rim and amendments to the bathymetry of the lagoon basin through dredging activi...

Puri¢cationand characterizationoftheantimicrobial peptide microcinN Gino Corsini, Eduardo Karahanian, Mario Tello, Katia Fernandez, Daniel Rivero, Jose Miguel Saavedra & Alonso Ferrer Laboratorio de Bacteriologia Molecular, Centro de Investigacion Biomedica (CIB), Facultad de Medicina, Universidad Diego Portales, Santiago, Chile; Laboratorio de Biologia Molecular, Centro de Investigacion Biomed...

BACKGROUND Evaluating shoes during sport-related movements may provide a better assessment of plantar loads associated with repetitive injury and provide more specific data for comparing shoe cushioning characteristics. HYPOTHESIS Accelerating, cutting, and jumping pressures will be higher than in straight running, differentiating regional shoe cushioning performance in sport-specific movemen...