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Jansen's metaphyseal chondrodysplasia is inherited in an autosomal dominant manner. Jansen's metaphyseal chondrodysplasia ( JMC ) is a disease that results from ligand -independent activation of the type 1 ( PTH1R ) of the parathyroid hormone receptor , due to one of three reported mutations (activating mutation).
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 .
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 ]
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.
Chondrodystrophy has an autosomal recessive pattern of inheritance.. Chondrodystrophy is an autosomal recessive disorder, meaning that in order for this disease to be expressed, the affected individual must possess two copies of the allele for the disorder.
In humans a similar mutation (G595E) has been associated with Schmid metaphyseal chondrodysplasia (SMCD), a relatively mild skeletal disorder that is also associated with dwarfism. [citation needed] The now extinct Ancon sheep was created by humans through the selective breeding of common domestic sheep with achondroplasia. The average-sized ...
Fibrochondrogenesis is a rare [1] autosomal recessive [2] form of osteochondrodysplasia, [3] causing abnormal fibrous development of cartilage and related tissues. [4]It is a lethal rhizomelic (malformations which result in short, underdeveloped limbs) form of dwarfism, [1] exhibiting both skeletal dysplasia (malformations of bone) and fibroblastic dysplasia (abnormal development of ...
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.