Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis


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An Aid to Radiodiagnosis

Camera G, Mastoiacovo P. Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects. Skeletal dysplasia. New York: Alan R Liss; Lethal neonatal chondrodysplasias in West Scotland, with a description of a thanatophoric, dysplasia-like autosomal recessive disorder. Am J Med Genet ; Measurement of the Femur Length The femur length measured from blunt end to blunt end parallel to the shaft.

Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis

A normal femur length consistent with expected age without bowing or angulation is considered adequate for screening of short limb dysplasias in a patient with no history of risk factors[1]. Sonograms TheFetus. All rights reserved. The information provided on this site is updated periodically. A rare, but potentially concerning, complication is the development of cholesteatomas, FD of the skull base may be associated with growth hormone excess. Sinuses may also be affected in craniofacial FD; however, the incidence of sinusitis is not greater than in the general population.

Optic nerves in craniofacial fibrous dysplasia FD in two different patients. Optic canals are narrowed but patent.

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The right optic canal is narrowed blue arrows. Vision in the right eye is preserved. Evaluation of hearing loss in craniofacial fibrous dysplasia FD. Brain compression in craniofacial fibrous dysplasia FD. A patient with known right parietal bone FD a develops an aneurysmal bone cyst causing mass effect on adjacent brain b — e. FD of the spine is very rarely observed in the absence of disease elsewhere in the body. The majority of spinal FD is the polyostotic form of the disease; the monostotic FD of the spine is exceedingly rare Fig.

Uncomplicated monostotic lesions are generally asymptomatic and usually do not cause significant deformity. In rare cases, severe and progressive FD can lead to severe neurological complications, respiratory compromise and even death. Classic FD findings are not seen on plain radiographs of the spine but become visible with development of vertebral collapse or deformity.

CT usually shows expansive lytic lesions with sclerotic rims and a decrease in vertebral body height. CT is also helpful in pre-surgical planning for detection of the degree of FD in each vertebral segment to be included in the fusion.


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MRI findings of patients with spinal FD are typically non-specific and similar to other locations. CT and MRI may demonstrate the extent of bony disease, paraspinal soft tissue extension, compromise of the spinal canal and spinal cord compression [ 20 ]. The diagnosis may be difficult, especially in adult patients with monostotic form, and may require biopsy. Spinal fusion is frequently effective and may be lifesaving.

Fibrous dysplasia FD of the spine.

The risk of skeletal complications increases with a high skeletal burden, and in patients with MAS who have one or more endocrinopathies. Six patterns of deformity of the proximal part of the femur according to the neck-shaft angle measurement and the presence or absence of lateral bowing of the proximal femoral shaft were described Fig. The classification of femur deformities in fibrous dysplasia FD.

Distal juxta-articular valgus deformity is also present. FD affects the entire femur. FD is the most common benign rib lesion. In adults, FD of the ribs is often discovered incidentally and is usually asymptomatic; however, it may present with obvious deformity or pain. Bone changes in MAS are often more severe than in polyostotic FD without extra-skeletal manifestations. MAS patients have the most extensive disease and the most complicated course of the disease, regularly experience multiple fractures, and require adequate surgical treatment [ 22 ].

Eighty-five percent of female patients have functionally active ovarian cysts, resulting in gonadotropin-independent precocious puberty. A typical ultrasound finding in these patients is a large unilateral ovarian cyst, which can sometimes be haemorrhagic and appear to have mixed cystic and solid elements Fig. Recurrent ovarian cysts lead to intermittent oestrogen production, resulting in breast development, growth acceleration and vaginal bleeding; during intervals between cyst formation, breast tissue typically regresses and oestrogen levels fall to prepubertal levels.

Ovarian cysts typically continue into adulthood, leading to irregular menses. This has the potential to interrupt ovulatory cycles, which may increase the time to conception in adult women. Patients with MAS may have findings mimicking juvenile granulosa cell tumours, sometimes leading to unnecessary oophorectomies.


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  • Since the cysts are mostly gonadotropin-independent, it is common to see extreme asymmetry between the two sides. Ovarian torsion is a potential complication in women with large and persistent cysts, but it occurs rarely [ 23 ]. Imaging cannot differentiate benign from malignant pathology Fig. The malignant potential of testicular lesions is unknown, but it appears to be low. Testicular abnormalities in McCune-Albright syndrome in three different patients.

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    These imaging findings correlate with Leydig cell hyperplasia on pathology. Ultrasound typically demonstrates diffuse benign changes such as multinodular goitre, and mixed cystic and solid nodules.

    Malignant transformation of affected thyroid tissue has rarely been reported Fig. Macrocystic pattern d — f and solid thyroid nodules g — i can also be seen in patients with MAS.

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    Ten to fifteen percent of individuals with MAS harbour GNAS mutations in the anterior pituitary that can lead to autonomous growth hormone production, typically accompanied by hyperprolactinaemia. The abnormality is usually diagnosed during young adulthood and is almost always associated with skull base FD.

    In many cases of growth hormone excess, the pituitary appears normal on MRI. However, even when an adenoma is seen on imaging, the pituitary is still likely to be diffusely involved on a histological level in patients with growth hormone excess. Therefore, removal of an adenoma is unlikely to be curative [ 26 ]. Pituitary adenoma in craniofacial fibrous dysplasia FD. IPMNs occur at an early age, and optimal care is evolving. Recently, liver adenomas and choledochal cysts were also described in patients with MAS.

    Please note, a fibrous dysplasia lesion in the left rib green arrows. Patients with Mazabraud syndrome have FD lesions and myxomas, typically located in the vicinity of the bone lesions. Mazabraud syndrome is rare.

    Until now, fewer than cases have been reported worldwide. The syndrome is more common with the polyostotic form of FD. Myxomas may be single or multiple. In general, the onset of FD predates the appearance of intramuscular myxomas, and soft tissue lesions become apparent many years later—usually in the 5th or 6th decade of life. The disease is more frequent in women than men, and patients are often asymptomatic.

    Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis
    Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis
    Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis
    Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis
    Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis
    Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis
    Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis
    Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis
    Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis

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