Achondroplasia in physical medicine and rehabilitation: A case report

Physical medicine and rehabilitation.

An important priority has been the development of quantitative methods for measuring the disability status of patients undergoing rehabilitation. Intramuscular injection of botulinum toxin is an effective new therapy for spasticity due to a number of causes.

[Oral manifestations of achondroplasia, a case report].

Achondroplasia a common form of dwarfism, caused by a single recurrent point mutation in more than 97% of patients, is an autosomal dominant disorder with an incidence of approximately 1/7500. The name of this disease was called Chondrodystrophia foetalis before Parrot in 1878 reported the name of this disease as Achondroplasia, distinguished from other similar diseases. The present case report...

Oral Manifestation of Achondroplasia - A Case Report

Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. It belongs to a group of disorders called chondrodystrophies or osteochondrodysplasias. It is a congenital genetic disorder resulting in rhizomedic dwarfism and is the most common skeletal dysplasia. This case report highlights the oral manifestation of a 3 year old male patient with achondroplasia.

of Physical Medicine and Rehabilitation

Polycystic kidney disease in a patient with achondroplasia: case report.

Autosomal dominant polycystic kidney disease is a multisystem disease involving many organs. An association with other diseases such as tuberous sclerosis, von Hippel-Lindau disease and Marfan syndrome have been previously described. We describe a 35 year old female with achondroplasia who developed polycystic kidney disease involving both kidneys and progressing to end-stage renal disease. To ...