ACHONDROPLASIA: WITH NOTES OF CASES

Three cases of achondroplasia with neurological complications.

The role played by congenital malformations of the skull and spine in the production of lesions of the central nervous system has been increasingly appreciated in recent years. In the skull premature synostosis of the sutures of the vault (craniostenosis) can lead to optic atrophy and symptoms of intracranial hypertension. Hydrocephalus and compression of the brain stem and upper cervical cord ...

Notes on Cases Treated with Radium

Notes of Cases of Aneurism

Notes of Some Remarkable Cases

Lexy Cuthbert, December 31. 1823, upwards of nine years of age, was attacked, in the beginning of January 1823, during the night, while in the Orphan Hospital, with colic pains, succeeded by vomiting. After this, though there was no further vomiting of consequence, she never took her food regularly ; but a degree of bulimia, or craving for animal food, generally prevailed ; at other times appet...

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...