sFGFR for achondroplasia

Achondroplasia.

Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many tissues, most strikingly the cartilaginous...

Clinical management of achondroplasia.

Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rar...

Anaesthetic management of achondroplasia.

We report a patient with achondroplasia who presented for emergency Caesarean section. Endotracheal intubation was not difficult. The reaction of this patient to drugs such as thiopentone and tubocurarine, judged on body weight basis, was normal.

In brief: Achondroplasia.

Achondroplasia: pathogenesis and implications for future treatment.

PURPOSE OF REVIEW Although the genetic defect underlying achondroplasia has been known for over a decade, no effective therapies to stimulate bone growth have emerged. Here we review the recent literature and summarize the molecular mechanisms underlying disease pathology and examine their potential as therapeutic targets. Currently used preclinical models are discussed in the context of recent...