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At least 19 recordsLinked to original sources
PubMed1978

Bone scintigraphy in hereditary multiple exostoses.

Two adult patients with multiple hereditary exostoses, a skeletal disorder with recognized malignant potential, each demonstrated increased 99mTc diphosphonate uptake in an exostosis in which renewed growth had begun. None of the other multiple exostoses in either patient showed abnormal uptake. Histologic study of the lesions demonstrated chondrosarcoma in one case and benign osteochondroma in the second. Although bone scintigraphy nonspecifically identifies bone growth rather than malignant degeneration, it is more useful than radiographic bone survey in the periodic surveillance of adult patients with this disorder.

Adult↗
PubMed1979

Hereditary multiple exostoses: clinicopathologic features of a comparative study in horses and man.

Investigation of hereditary multiple exostoses in horses under controlled research conditions for 10 years and epidemiologic studies that have spanned up to five generations of human families contain notable similarities. The present study demonstrated that a single dominant autosomal gene is responsible for hereditary multiple exostoses in horses and man. Affected individuals transmit this trait to approximately 50% of their progeny, whereas nonaffected individuals do not transmit the condition to their offspring. The tumors in affected horses are most often present at birth. They tend to be bilaterally symmetrical and vary in size, shape, and texture. Those on the legs generally do not appear to enlarge as the animal matures, but others, notably those on the ribs and scapulae, enlarge until skeletal maturity, Histologically, the tumors appear as typical ostosteochondromas in both horse and man. Sarcomatous transformations have not yet been detected after 10 years in horses, although such changes are occasionally reported in the similar disease condition in man. The remarkable similarities of hereditary multiple exostoses in the horse to that in man provide an opportunity for comparative biomedical study.

Animals↗
PubMed1979

Hereditary multiple exostoses with myelopathy.

A 58-year-old woman with hereditary multiple exostoses had slowly progressive myelopathy due to a vertebral exostosis that compressed the spinal cord at T1-2. She did not show skeletal deformities, but had numerous palpable long-bone exostoses. While CNS complications are rare in hereditary multiple exostosis, 17 other cases have been reported.

Exostoses, Multiple Hereditary↗
PubMed1979

Paraparesis in hereditary multiple exostoses: case report.

The authors report a case of hereditary multiple exostoses (HME) with neurologic complications, and review the literature. A 23-year-old man exhibited a worsening spastic paraparesis with sphincter dysfunction. The cranial nerves and the exteroceptive and deep sensations were apparently undamaged. The family history, the physical examination, and the systemic radiologic examination revealed all the characteristics of HME. The neurologic complication was caused by an exostosis, arising from the C2 right hemilamina, compressing the spinal cord. The patient quickly improved after a laminectomy.

Adult↗
PubMed1978

Hereditary multiple exostoses. A rare cause of spinal cord compression.

A case of hereditary multiple exostoses (HME) with compression of the cervical cord, the cervical plexus, and the ulnar nerve is reported. Complete recovery following surgery was obtianed. Review of the literature revealed 21 previous cases of HME with cord compression. The cervical and thoracic areas are predominantly affected and the symptoms usually evolve slowly. Recovery after laminectomy is to be expected in the majority of the cases.

Adult↗
PubMed1992

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

Hereditary multiple exostoses is a dominantly inherited skeletal disorder which alters enchondral bone during growth and is characterised by exostoses of the juxta-epiphyseal regions. Using polymorphic DNA probes, we have been able to exclude the disease gene from close proximity to the 8q24.1 region where a dominant syndrome with multiple exostoses, the trichorhinophalangeal syndrome type II (TRP II, Langer-Giedion syndrome, MIM 15025), has been previously localised (pairwise linkage Z = -8.96 at theta = 0 with probe L48 at locus D8S51). Multipoint linkage analysis using probes L48, L24, and L1 consistently excluded the HME gene from a large area of the distal long arm of chromosome 8, spanning the smallest region of overlap assigned to the TRP II gene. These studies support the clinical view that HME and TRP II are distinct entities.

Chromosomes, Human, Pair 8↗
PubMed1975

[Hereditary multiple exostosis with spinal cord compression].

A case of hereditary multiple exostoses successfully operated is reported. The patient, a 15 year-old white brazilian boy, was admitted with tetraplegia and Babinski's sign. Early diagnosis followed by prompt surgery may prevent permanent spinal cord damage.

Adolescent↗
PubMedDate not supplied

[Familial dermo-chondro-corneal dystrophy (François' syndrome)].

The François' syndrome associates disseminated firm nodular subcutaneous lesions, a deforming arthropathy and a corneal dystrophy. Inheritance seems to be recessive. Six cases of this rare syndrome have been previously published. The syndrome is reported here in two Mexican brothers. In the authors' opinion the François' syndrome is not related to the xanthomatoses. It should be considered as a genetically recessive arthropathic nodular fibromatosis.

Child↗
PubMed1975

[Multiple cartilaginous exostoses with polyposis of stomach and colon: a new, hereditary combination different from Gardner's syndrome (author's transl)].

Multiple cartilaginous exostoses were found in a 41-year-old man and his two sons, aged 11 and 15 years. The older boy had extensive polyposis of the sigmoid colon and gastric antrum, his brother had radiological changes suspicious of sigmoid polyposis, while there was no radiological evidence of polyposis in the father. None of them had any symptoms of polyposis. The described combination of findings suggests a separate entity from Gardner's syndrome, perhaps on the basis of a combined dominant gene inheritance. In case of multiple exostoses radiological and endoscopic examination of the gastro-intestinal tract for polyposis are indicated.

Adolescent↗
PubMedDate not supplied

The development of the upper end of the femur in multiple hereditary exostosis.

A roentgenographic study of 50 hips suggests that an increased anteversion-valgus configuration of the upper end of the femur is an intrinsic component and common in multiple hereditary exostosis. In one 8-year-old girl, the increased anteversion-valgus may have accelerated dislocation of a septic arthritic hip.

Adolescent↗
PubMed1976

Multiple hereditary osteochondromata. Report of an early case.

Observations on the early development of multiple osteochondromata in a 3-year-old girl suggest that aberrant growth of a peripheral segment of the growth plate, with extension primarily toward the metaphysis, but towards the epiphysis, impairs development of adjacent areas of epiphyseal cartilage.

Bone Neoplasms↗