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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 .
The schedule for childhood immunizations in the United States is published by the Centers for Disease Control and Prevention (CDC). [1] The vaccination schedule is broken down by age: birth to six years of age, seven to eighteen, and adults nineteen and older. Childhood immunizations are key in preventing diseases with epidemic potential.
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.
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones.
Example Polish call for vaccination against Diphtheria and Tetanus. Global vaccination coverage 1980 to 2019 among one year olds [1]. A vaccination schedule is a series of vaccinations, including the timing of all doses, which may be either recommended or compulsory, depending on the country of residence.
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. [1] The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones ( epiphyses and metaphyses ).
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 ...