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Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation). [1] JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide.
Metaphyseal dysplasia, or Pyle disease, [3] is a disorder of the bones. It is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures .
Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. [2] [3] [4]Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels.
Such manifestations usually result from disruption of physeal growth especially that osteochondromas typically arise at the metaphyseal ends of long bones in close proximity to the physis. [ 1 ] [ 5 ] Intra-articular osteochondromas of the hip can induce limitation of range of motion, joint pain and acetabular dysplasia. [ 2 ]
Phytohemagglutinin. CHH is an autosomal recessive [2] inherited disorder. It is a highly pleiotropic disorder. A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent) has also been observed with the disorder.
Drugmakers plan to raise U.S. prices on at least 250 branded medications including Pfizer COVID-19 treatment Paxlovid, Bristol Myers Squibb's cancer cell therapies and vaccines from France's ...
Hayden Panettiere's brother Jansen has died at 28. (Photo: Amanda Edwards/Getty Images) (Getty Images) The loss of actor Jansen Panettiere, the 28-year-old younger brother of Hayden Panettiere ...
The inability to belch -- known as no burp syndrome -- can cause discomfort and detract from quality of life. Here's why some doctors are using Botox injections to cure the condition.