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Updated: May 21, 2025
The nodules or "adventitious joints" were the result of imperfect ossification, or, in other words, of motion before ossification was completed. Analogous to rachitis is achondroplasia, or the so called fetal rickets a disease in which deformity results from an arrest, absence, or perversion of the normal process of enchondral ossification.
It is decidedly an intrauterine affection, and the great majority of fetuses die in utero. Thomson reports three living cases of achondroplasia. The first was a child five months of age, of pale complexion, bright and intelligent, its head measuring 23 inches in length.
The X-ray appearances of the bones affected are of a striking character; apart from the outgrowths of bone or "tumours" there is evident a widespread alteration in the internal architecture of the bones, which suggests analogies with other disturbances of ossification such as achondroplasia and osteomyelitis fibrosa.
By his side stands a dwarfish figure with disproportionately large head, whose body exhibits deformities typical of the developmental disease now known as Achondroplasia; in addition to these deformities we note that his body is hairy and the bridge of his nose sunken; on his back he carries a hare which is almost as tall as himself.
In the forearm or leg, where there are two parallel bones, if the growth of one is arrested the continued growth of the other results in a deviation of the hand or foot to one side. In certain diseases, such as rickets and inherited syphilis, and in developmental anomalies such as achondroplasia, dwarfing of the skeleton results from defective growth of bone at the ossifying junctions.
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