Loeys-Dietz syndrome is characterised by vascular aneurysms, hypertelorism, and a bifid uvula. We report on an 11-year-old boy with Loeys-Dietz syndrome who presented with bilateral radial head dislocations and severe osteopaenia with changes of avascular necrosis in both hips causing an out-toeing, wide gait. Considering the poor prognosis for elbow movement and possible radial head dysplasia,...

We studied sinusoidal (SIN) and step-ramp (SR) pursuit in two rhesus monkeys, before and after surgical lesions of the cerebellar nodulus and uvula (Nod/Uv). Eye movements were recorded using the magnetic field scleral search coil method. Pursuit targets were generated by an LCD projector and back-projected onto a tangent screen in an otherwise dark room. After the Nod/Uv lesions, both monkeys ...

EED: Erythema elevatum diutinum LCV: Leukocytoclastic vasculitis INTRODUCTION Erythema elevatum diutinum (EED) is a rare, chronic form of leukocytoclastic vasculitis (LCV) that belongs to the group of neutrophilic dermatoses including Behçet disease, Sweet syndrome, and pyoderma gangrenosum. The exact pathogenesis of the condition is poorly understood, but it is thought to result from immune co...

Loeys-Dietz syndrome (LDS) is a recently described autosomal dominant genetic syndrome caused by mutations in the gene encoding transforming growth factorreceptor 1 or 21 with no known cardiac involvement. Common characteristics include aortic and arterial aneurysms or dissections, orbital hypertelorism, and cleft palate or bifid uvula. We report the first case of a cardiomyopathy associated wi...

Chronic cough is a distressing symptom for patients and parents in paediatric practice. Investigations of the child with persistent cough can be simple or complex depending on the underlying cause. There are some unusual reasons for chronic cough, which need to be kept in mind when investigating the cause. A case of a long, floppy uvula causing chronic cough through mechanical irritation of upp...