Syndromes: Rapid Recognition and Perioperative Implications >

M

Metaphyseal Chondrodysplasia, Jansen Type

Topics Discussed:

metaphyseal chondrodysplasia, jansen type.

Sections:

At a Glance, Synonyms, Incidence, Genetic Inheritance, Pathophysiology, Diagnosis, Clinical Aspects, Precautions before Anesthesia, Anesthetic Considerations, Pharmacological Implications, References

Excerpt:

"Extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bulbous metaphyses (metaphyseal chondrodysplasia). Affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings that typically become apparent during early childhood. Infants with Jansen-type metaphyseal chondrodysplasia may have characteristic facial abnormalities and additional skeletal malformations. Hypercalcemia is present...."

The content above is only an excerpt. For full access, log into an existing user account below, purchase an annual subscription, or purchase a short-term subscription to the complete website.

Subscriber Log In:

Username:

Password:

Forgot your Username/Password?