RESPIRATORY PROBLEMS IN 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...

In brief: Achondroplasia.

Problems in Respiratory Medicine

THE increasing importance of geriatric medicine in the medical curriculum is shown by the fact that, whereas ten years ago there were no short soft-cover textbooks on the subject, in 1981 second editions of three of these books appeared. The second edition of this book has the same basic format as the first and is a product of the author's wide knowledge and experience of the subject. Revisions...

Hereditary Achondroplasia in the Rabbit

Pathological observations on hereditary achondroplasia in the rabbit have been described. At autopsy, the chief features of interest are: reduced size with disproportionately shortened extremities and large head, cutaneous and subcutaneous edema of variable degree and distribution, small shortened bones with a cartilaginous appearance and texture, immature teeth, and cleft palate in one-fourth ...

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...