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• W2078273068 abstract "A chondroplasia is defined by Lawford-Knaggs as defective evolution in the process of endochondral ossification which is evidenced at a very early period of intra-uterine life. The dystrophy may be so severe that the fetus dies. The disease leads to stunting of the bones preformed in cartilage. Bones developing in membrane are but infrequently involved. The disease has existed for centuries, as is attested by studies of ancient statues and pictures. In the early days of elaborate royal courts, the ladies-in-waiting often purchased these dwarfs for large sums of money. Though not attractive physically, they are usually intelligent, healthy, and strong. The disease often runs in families, showing quite definite hereditary influences. In 1912 Reschbieth and Barrington recorded the pedigrees of 80 individuals of whom 20 gave a history of the disease in two or more generations. The female seems more predisposed than the male, for of 126 cases, 70 were in females and 56 in males. Often a diagnosis can be made by inspection, as these patients present a rather characteristic habitus. Frequently they have a large head “vertex,” pug nose, and blue sclerae. The trunk is of normal length; the extremities are usually thick and short. This shortness of the extremities gives the impression that the body is unusually long, though in reality the trunk is of normal length. The body presents an appearance similar to that of the Dachshund. Frequently the hands are deformed. The third finger is short and the hands are broad. The trident hand, or at least a semblance of it, is seen in most patients. The fingers are divided into three groups diverging at the ends. The adult achondroplastic dwarf is usually under 4 feet in height. The face is small, the vertex of the skull large, and the facial expression that of a much older person. The chest is broad and the anterior ribs are often flared. The clavicles are straight. In profile the anterior lumbar curve seems exaggerated and the buttocks are prominent. The genital organs both of the male and female are normal. The female may become pregnant, in which case the pelvic deformity becomes of paramount importance. Since Parrot first described this condition in 1878 and called it achondroplasia there have been many other names attached to it. Probably the most descriptive is “chondrodystrophia foetalis” which was favored by Kaufmann in his description of the disorder in 1893. In view of more common usage and understanding, however, it seems best to avoid further confusion by retaining Parrot's designation, namely, achondroplasia foetalis. Medical literature since 1878 is replete with discussions of the osseous dystrophies, many of which have not been clearly differentiated. No attempt is being made to add anything new to that literature. It is felt, however, that two of these dystrophies most commonly confused should be clearly distinguished, namely, achondroplasia foetalis and hereditary deforming chondrodysplasia (multiple cartilaginous exostoses)." @default.
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• W2078273068 date "1941-11-01" @default.
• W2078273068 modified "2023-10-18" @default.
• W2078273068 title "Achondroplasia Foetalis (Chondrodystrophia Foetalis)" @default.
• W2078273068 doi "https://doi.org/10.1148/37.5.581" @default.
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