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PubMed1980

The foot and ankle in multiple hereditary exostoses.

Twenty-two cases of multiple hereditary exostoses revealed pathological changes in two areas: the first group caused by epiphyseal disturbances, and the second group due to mechanical problems created by the exostoses. The epiphyseal disturbances resulted in ankle valgus, shortened metatarsals, and angular deformities of the necks of the metatarsals. The exostoses produced local tenderness, synostosis of the medical subtalar facet resulting is loss of subtalar motion, and asymptomatic synostosis of the lower tibial fibular syndesmosis.

Adolescent↗
PubMed1990

Case report 622. Multiple cartilaginous exostoses.

The case is presented of multiple cartilaginous exostoses involving the right and left metatarsals and phalanges, left scapula, ends of several distal ribs, and the spinous processes of several thoracic and lumbar vertebrae in a 3-month-old female Scottish terrier dog. Radiographical studies showed circumscribed expansile lesions in the affected bones. The dog developed neurological deficits 3 weeks later. Myelography displayed extradural compression of the opaque column at several thoracolumbar vertebrae. The biopsy specimen from an affected phalanx consisted of trabecular bone and hemopoietic tissue covered by a thin cap of hyaline cartilage. The dog was euthanized due to the poor prognosis. At autopsy, the surface of the affected bones was covered by a bluish-white, smooth, undulating cartilage cap. Histopathologically, the cartilaginous cap consisted of hyaline cartilage without a reserve zone, and abnormal endochondral ossification. The hereditary nature and the malignant transformation of multiple cartilaginous exostoses in the dog have been considered.

Animals↗
PubMed1975

Multiple cartilaginous exostoses in the dog.

The clinicopathologic aspects of multiple cartilaginous exostoses (MCE) in 2 dogs were compared with those in 9 previously reported cases of MCE in dogs. Although a familial tendency is probable, there is apparently no sex or breed predilection. Only bones that developed by endochondral ossification were affected. The vertebrae, ribs, and long bones were the most frequent location of exostoses. Bones of the carpal and tarsal joints and the skull were not affected in the cases evaluated. Physical examination and radiography may provide strong supportive evidence for a diagnosis of MCE, but a definitive diagnosis must be based on microscopic evaluation of osseous lesions. Treatment is unnecessary unless growth of exostoses results in clinical sequelae. Surgical extirpation of lesions should be considered if dysfunction of the skeletal, muscular, or neurologic systems develops. The prognosis is variable, being dependent on the location and number of lesions, the age of the patient at the time of diagnosis, and the presence or absence of clinical complications.

Animals↗
PubMedDate not supplied

Canine multiple cartilaginous exostoses: unusual manifestations and a review of the literature.

Multiple cartilaginous exostoses were diagnosed in a two-year-old Great Dane and a four-month-old border collie. Clinically, the Great Dane showed only mild discomfort, while the border collie exhibited tetraparesis due to cervicothoracic compression. Unusual features in the Great Dane were exostoses that bridged physes, with progression after skeletal maturity. The border collie puppy's exostoses resembled tumoral calcinosis radiographically. Limb exostoses in this puppy often were para-articular, and most were not attached to the underlying bone. These features resembled metachondromatosis in humans. Analysis of previously reported cases of multiple cartilaginous exostoses indicated that the prognosis is guarded to poor.

Animals↗
PubMed1975

[Spinal cord compression in multiple cartilagineous exostoses (case report)].

A 53-year-old patient with multiple cartilagineous exostoses developed narrowing of the thoracic spinal canal with compression of the cord and spastic paraplegia. The importance of radiologic examination of the whole spine as well as of the extremities is emphasized. When there is an exostosis in the spine neurologic examination disclosing cord compression should be carried out at regular intervals. If there are signs of cord compression, early decompressive laminectomy is the treatment of choice.

Arthritis↗
PubMed2003

Reconstruction of forearm deformities in multiple cartilaginous exostoses.

The management of complex forearm deformities in patients with multiple cartilaginous exostoses is controversial. The objective of this study is to look into the outcome of treatment with the combined use of ulna lengthening, radial osteotomy, and excision of exostosis in our six patients, who all had Masada type 1 deformity of the forearm. Clinical assessment was performed using the pre- and postoperative range of motion of the wrist, forearm and elbow. The chief symptom each patient had was noted as well as the demographic data of all patients. Radiological assessment was performed by checking the degree of negative ulna variance, the radial articular angle, and the degree of carpal slip. The degree of satisfaction of the patients and their parents were noted. Good clinical and radiological results were obtained at a mean follow-up of 2.5 years. All patients and parents were satisfied and there was no recurrence of deformity in the latest follow-up. The authors believe in early and aggressive treatment of Masada type 1 deformity of the wrist and forearm for multiple cartilaginous exostoses with a combination of excision of exostosis, ulna lengthening and radial osteotomy.

Bone Lengthening↗
PubMed1989

[A combination of multiple cartilaginous exostoses and enchondromatosis of bone in a family].

Four cases of multiple cartilaginous exostoses in a family (mother and three children) are described. In two children the exostoses are combined with enchondromatosis of the large tubular bones. At some phalanges of these children the changes show the roentgenologic signs of solitary enchondromas and ecchondromas and in one of the cases with cartilaginous exostoses osteochondroma-like changes were found. The combination of the described symptoms seems to indicate a close relationship between enchondromatosis and the cartilaginous exostoses, as well as between these chondrodysplasias and the cartilaginous tumours.

Adult↗
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↗
PubMed1984

Multiple exostoses-mental retardation syndrome. A case report and review of the literature.

A girl seven years ten months of age with multiple exostoses-mental retardation (MEMR) syndrome was treated by bilateral supracondylar osteotomies at the age of six years 11 months for correction of severe genu valgum. The case is the 14th to be described in the English-language literature and seems to be the first on record in which the deformity was corrected by surgery. Typical findings in this syndrome include unusual facial features with bulbous nose, sparse scalp hair, large ears, microcephaly, mental retardation, cone-shaped epiphyses of the digital phalanges, and multiple exostoses. Each of these features may also appear in other constitutional and genetic disorders, and only their combination points to a definite diagnosis of MEMR syndrome. Other features, e.g., joint laxity and loose skin, are transient and may cause some confusion in diagnosis, sometimes leading to a mistaken diagnosis of cerebral palsy or Ehlers-Danlos syndrome. Thus, care must be taken in consecutive examinations to seek and identify each of the above mentioned typical features of the disorder.

Child↗
PubMed2000

Multiple maxillary and mandibular exostoses associated with multiple dermatofibromas: a case report.

Exostoses of the maxilla and mandible are nodular protuberances of mature bone that need to be accurately distinguished from other more diagnostically significant lesions, notably exosteal osteomas. Multiple dermatofibromas are rare and may be associated with altered immune function. We report the case of an otherwise healthy 47-year-old woman who was first seen with multiple maxillary and mandibular exostoses associated with multiple dermatofibromas. This association has not been previously reported.

Exostoses↗
PubMed2005

Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome).

STUDY DESIGN: Case report of a severe upper cervical cord compression and tetraparesis by a massive cervical exostotic osteochondroma in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome; LGS). OBJECTIVE: To describe this very rare pathological condition and the results of surgical intervention. SETTING: Gifu, Japan. METHODS: A 23-year-old man was referred to our clinic because of progressing tetraparesis. He had previously been diagnosed with hereditary multiple exostoses and mental retardation. As he had not complained of any symptoms, his family only noticed the tetraparesis after advanced deterioration. His face possessed the pathognomic features of LGS. A postmyelogram CT scan demonstrated an exostotic mass arising from the left-side C2 pedicle with associated severe spinal cord compression. He was diagnosed with LGS. Hemilaminectomy on the left side and resection of the osteochondroma were performed. RESULTS: At 5 years postoperatively, a neurological examination showed the full return of all motor functions. The CT scan revealed no intracanalar recurrence of the tumor. CONCLUSION: In this case of severe tetraparesis due to cervical osteochondroma, decompression by hemilaminectomy provided excellent results. In patients with LGS and intracanalar osteochondroma, the neurological deficit may be masked by mental retardation. Hence, awareness of this pathological condition will help clinicians diagnose it at an early stage.

Adult↗
PubMed1996

[Positional cloning of the putative gene responsible for transient abnormal myelopoiesis and that for multiple cartilaginous exostoses].

Positional cloning of the putative gene responsible for transient abnormal myelopoiesis (TAM) and that for multiple cartilaginous exostoses (MEX) is described. TAM is a leukemoid reaction occurring frequently in Down syndrome (DS) newborn infants and they often develop true leukemia several years later. The previous findings of "disomic homozygosity in trisomic cells" and tentative mapping of the TAM gene to 21q11.1, and an encounter of a unique DS-associated TAM patient with inv(21) (q11.1q22.13) let us start positional cloning of the TAM gene. One type of MEX is an autosomal dominant disorder and patients with MEX sometimes develop chondrosarcoma. The MEX gene has been mapped to 8q24. We encountered a sporadic case of MEX with de novo t(8q; 13q). Thus, we hypothesized that in both patients, the TAM and the MEX genes are disrupted by the structural chromosome abnormalities. For TAM, we first mapped the proximal breakpoint of inv(21) between 2 STSs using 7 cosmid clones as FISH probes that were isolated on the basis of STS markers at the 21q11.1 region, isolated their corresponding YACs, and then analyzed them. However, since YACs corresponding to 2 other STSs between the two markers could not be isolated, we carried out a chromosome walking to construct a cosmid contig between the 2 STSs. Southern analysis with a cosmid clone within the contig detected EcoRI-/HindIII extra bands on the patient's DNA. The cDNA screening and exon trapping to isolate a gene from the region are underway. Similarly, in the MEX patient we mapped the 8q breakpoint between 2 cosmid markers, then isolated YACs and cosmid subclones. By exon trapping after detection of a cosmid covering the breakpoint, an exon-like sequence was isolated. The 3'-RACE/5'-RACE revealed a novel transcript from this cosmid. Whether the transcript is the MEX gene remains to be determined.

Chromosome Mapping↗
PubMed1999

[The Taniguchi classification in cases of multiple cartilaginous exostoses].

27 patients treated surgically at Child Orthopaedic Clinic of Pomeranian Medical Academy between 1974-1996 for multiple cartilaginous exostosis (Aclasia Diaphysealis Keith) were classified into three groups according to the Taniguchi classification. This classification is based on whether multiple cartilaginous exostoses are present on distal forearm. Group I--no involvement of the distal forearm (n = 2), in group II involvement of the distal forearm without shortening of either bone (n = 7) was stated. Group III consists of members with involvement of the distal forearm with shortening the radius or the ulna (n = 18). Groups were compared with regard to: number of lesions, distribution of exostoses in different body areas, age of onset of the Keith disease, height of children, presence of valgus deformity of the ankle, dislocation of the radial head and presence of exostoses around hip area. This classification should be useful in estimating severity of Keith disease, identifying cases at high risk for complications like dislocation of the radial and malignant transformation.

Adolescent↗
PubMed1979

[Disturbed growth in height in multiple cartilaginous exostoses (author's transl)].

Basing on the hypothesis that reduced body height in patients with multiple cartilaginous exostoses would be mainly accounted for by shorter extremities, not by a shorter trunk, the authors clinically examined 19 exostosis patients in respect of thigh, lower leg, upper and lower arm, as well as height of the seated patient. The dimensions were compared by the method of matched pairs, with 19 volunteers without diseased skeleton, who corresponded with one of the exostosis patients in respect of age, sex and height of seated patient. Results were evaluated according to Wilcoxon's test. This showed a statistically significant reduction in length of the extremities in adults with multiple cartilaginous exostoses.

Adolescent↗