CHONDRODYSTROPHIA FŒTALIS OR ACHONDROPLASIA.

On the Pressure Experienced by the Fœtus in Utero during Pregnancy; with Special Reference to Achondroplasia (Chondrodystrophia Fœtalis)

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...

Osteo-chondrodystrophia deformans (Morquio Brailsford disease).

In 1929 Morquio described an osseous dystrophy in a family, in which four out of five siblings were affected. In 1931 Brailsford described the radiological features of the disease. Since then about 40 additional cases have been reported in subjects all of European descent. Of the four cases presented in this paper, two are pure Africans and two are of mixed European-African racial origin. Littl...

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.