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Syndromes: Rapid Recognition and Perioperative Implications
Metaphyseal Chondrodysplasia, Jansen Type
metaphyseal chondrodysplasia, jansen type.
At a Glance, Synonyms, Incidence, Genetic Inheritance, Pathophysiology, Diagnosis, Clinical Aspects, Precautions before Anesthesia, Anesthetic Considerations, Pharmacological Implications, References
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...."
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