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So, I leave it to the reader to choose the mnemonic that sticks in your brain the best. Having regurgitated this list of possibilities, it is time to check and see if the gods are smiling, and our patient has one of these entities. Unfortunately, to do this, you actually have to learn something about these entities, so gird your loins and do so. Listed below are a few germane facts about each of them to get you started. First, a few words on dwarfism.

Most types are very rare and quite a few are lethal.

Of the nonlethal types, the only really common type of short-limbed dwarfism is achondroplasia. Therefore, once you have learned the important stuff about achondroplasia, the smart money suggests moving on to more practical topics. Classic achondroplasia is a common autosomal dominant disorder, and is compatible with a long life span.

The homozygous form, born of two parents with this common heterozygous form, is quite rare and quite lethal. However, most cases of achondroplasia are due to new mutations, rather than inheritance from a parent.

Prenatal Diagnosis of Skeletal Abnormalities

The very name of this syndrome suggests that the primary problem here is a generalized defect in enchondral bone formation. Once you know this, you can predict a lot of the findings seen in these people. Most of the appendicular skeleton is formed by and grows in size by enchondral bone formation. Therefore, we can accurately predict that the long bones and therefore the patient will be short.

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Fibrous dysplasia for radiologists: beyond ground glass bone matrix

The characteristic shape of the skull and face in achondroplasia are also a logical extension of these principles. The calvarium is modelled on membranous bone, and its eventual size is merely a reflection of brain size. These people have brains of normal size, so their calvaria are likewise of normal size. However, the face and skull base come from enchondral bone, and end up relatively small, in comparison to the skull.

The foramina of the skull base and spine and the spinal canal are often small, which may lead to prominent neurological problems and spinal stenosis. This is an autosomal dominant disorder whose very name tells us a lot about it. Dysostosis indicates an abnormality in the development of bone, and cleido- clavicle and cranial head tell us where major abnormalities occur. This disorder occurs in both membranous and enchondral bone, and has a striking propensity for affecting midline structures. Prominent features include a large head with delayed suture closure, Wormian bones, hypertelorism, a small face, dental dysplasia, hypoplasia or aplasia of the clavicles, a narrow pelvis, and several varieties of spinal abnormalities.

Just about every other bone in the body may be involved as well, including the ossicles of the ear. Despite the midline tendency, the appendicular skeleton is also frequently involved. These patients have a normal life expectancy. Prominent complications of this syndrome include dental anomalies, hearing loss, scoliosis, and dislocations of the shoulder, radial head or hip.


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  • Skeletal Dysplasias;

Various abnormalities of the fingers may be seen, either alone or in association with other findings in a variety of syndromes. If you spot odd-looking fingers, characterize them and then look in Drs. How do you characterize them? English will do — short fingers, fused fingers, and too many fingers are common varieties. However, if you want to look these up in a gamuts book, you first have to translate this to Doctor Talk tm. Ergo, a short glossary follows:.

Most enchondromas are solitary. However, some unfortunate patients may have a syndrome of multiple enchondromas, a. This syndrome, unlike MHE see below is not hereditary. Although any bone may be involved, the smart money is usually on the tubular bones of the arm and leg. Along with the classic central expansile pattern seen with classic solitary enchondromas, one may also see linear or columnar lucencies in the metaphyses, representing columns of growing cartilage.

Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis

These hemangiomas may contain phleboliths, making the diagnosis possible on plain radiographs. This idiopathic disorder is due to excessive proliferation of the spindle cell fibrous tissues in bones. Although 2 cases of a congenital autosomal recessive form of fibrous dysplasia have been reported, every other case has been sporadic, without any known hereditary component. Although this process may occur rarely in the cortical bone, the vast majority of cases originate in the medullary space. Therefore, most cases present as bony enlargement with the process seeming to arise from an expanded medullary space.

The main clinical significance of this entity depends upon exactly which bones are affected. These bones will exhibit deformity, enlargement, and pain. In the later form, the bony involvement is often unilateral, but not always. This familial disorder has no gender predilection, and often occurs in Ashkenazi Jews. The usual form of the disorder is associated with a normal life span, although infantile and juvenile forms may result in mental retardation and an early demise.

Hold that thought: stuff accumulating in the RE cells and causing problems. As far as most radiologists are concerned, it could just as easily be chocolate chip cookie dough that is piling up in the RE cells. The liver and spleen are usually quite enlarged, as are the RE cells in the bone marrow sometimes called Gaucher cells. The next concept to consider is that the marrow space in the bone is a closed space. As these Gaucher cells enlarge, the intramedullary pressure begins to rise, which eventually may lead to occlusion of the intramedullary veins and hence bone infarction.

As these bone infarcts evolve, one will be able to see the typical findings on MRI and then other imaging methods.


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The osteonecrosis may also develop in a subchondral location such as the femoral head in about half of patients, leading to subchondral collapse and early arthrosis. These patients may also be at increased risk for osteomyelitis. This has also been called X-linked hypophosphatemia, primary renal hypophosphatemic rickets or familial vitamin D-resistant rickets. As one of these names implies, it is due to a hereditary defect of the renal tubules, leading to decreased reabsorption of phosphate and therefore reduced serum phosphate levels. As the name also implies, this decreased reabsorption does not respond to usual amounts of vitamin D.

This defect is passed on with an X-linked dominant mode of inheritance. In general, this disorder exhibits rachitic epiphyseal and metaphyseal abnormalities predominantly in the lower limbs. This is best seen when comparing knee and wrist radiographs in the same patient. These patients also may demonstrate a generalized bone modeling error resulting in short, squat bones. This is a familial disorder of connective tissue, primarily involving the eye, skeleton, and cardiovascular system.

Although sporadic cases occur, most cases are due to autosomal dominant gene with a high degree of penetrance. I would like to be able to point to a single genetic defect of connective tissue that logically and inexorably leads to the findings in this syndrome. Investigators are still uncertain of whether the primary defect lies in collagen, elastic fibers, or both.

Online Gamut Index Of Skeletal Dysplasias An Aid To Radiodiagnosis

The skeletal overgrowth characteristic of this disorder is especially puzzling, and none of the current theories of defects in collagen synthesis do a very good job of explaining this overgrowth. With this build-up, you would expect these patients to be characteristically tall and thin. You would be right.


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Other common skeletal findings include scoliosis and hypermobile joints. Common ocular abnormalities include bilateral ectopia lentis, myopia, and retinal detachments. Associated cardiac abnormalities lead to a shortened life expectancy for these patients. Osteochondromas usually have an absolutely pathognomonic appearance. The key word here is continuity.

Peter Beighton

The cortex and medullary space of normal bone flows continuously into that of the osteochondroma see figure below. Multiple hereditary exostosis MHE syndrome is characterized by multiple osteochondromas throughout the skeleton, and this disorder seems to be hereditary surprise! Some patients without this syndrome will occasionally develop one or more osteochondromas. As it turns out, this fascinating syndrome has many points of similarity with some of the colonic polyposis syndromes. For example, the lesions may be pedunculated or sessile, they may be single or too numerous to count, and they may undergo malignant degeneration.

The answer in both cases is that one looks for evidence that the process is a systemic disorder and not just a focal, sporadic lesion.