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At least 649 records · Page 36Linked to original sources
PubMed1986

Adenosine deaminase deficiency and chondro-osseous dysplasia.

An in vitro model of ADA deficiency is selectively toxic to cartilage from immature rabbits with a greater effect on growth plate than articular cartilage. The selective toxicity observed appears to be the consequence of ATP depletion. These results support the hypothesis that the chondro-osseous dysplasia observed in patients with ADA deficiency is caused by the disordered metabolism that results from the enzyme deficiency.

Adenosine Deaminase↗
PubMed1991

Case report 691. Radiation-induced osteochondromas (RIO) arising from the neural arch and producing compression of the spinal cord.

A case of a 16-year-old girl with a RIO of the T11 neural arch compressing the spinal cord is presented. The radiation therapy had been given after removal of a Wilms' tumor at 1 year of age. RIOs usually occur in the long bones and are diagnosed about 8 years following irradiation. Spinal cord or nerve root compression is usually associated with multiple cartilaginous exostoses.

Adolescent↗
PubMed1992

Benign osteochondromas and exostotic chondrosarcomas: evaluation of cartilage cap thickness by ultrasound.

Ultrasonography (US) enables accurate assessment of the cartilage cap of exostoses. The cartilage cap appears as a hypoechoic layer covering the hyperechoic surface of the calcified part. Measurements of cap thickness with US were compared with measurements performed on pathological specimens in 22 resected exostoses and 2 exostotic chondrosarcomas. The US measurements proved to be very accurate, with a mean measurement error of less than 2 mm for cartilage caps less than 2 cm thick. The detection rate and measurement accuracy of US were higher than with computed tomography (CT) and comparable to magnetic resonance imaging (MRI), which were available in 14 and 10 cases, respectively. US appears to be a good procedure for evaluating the cartilage cap, which is usually thin for a benign exostosis and thick for a malignancy. In addition, other complications--such as bursa formation--are easily recognizable. The sole limitation is that US cannot visualize the cartilage cap when it is inwardly orientated or deeply located in soft tissues, which are both, however, relatively uncommon situations.

Bone Neoplasms↗
PubMed1989

Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.

The anonymous DNA probe L32, which defines the D8S48 locus within the Langer-Giedion syndrome chromosome region on the long arm of chromosome 8, was used to search for a common restriction fragment length polymorphism. A HindIII and an MspI polymorphism were detected (polymorphism information contents 0.25 and 0.19, respectively). Both polymorphisms were informative in the family of a Langer-Giedion patient carrying a de novo interstitial deletion 8q23-24.1. Lack of transmission of a maternal haplotype indicates that this deletion occurred during maternal gametogenesis. This finding contrasts with the frequent paternal origin of mutations in other microdeletion syndromes.

Chromosome Banding↗
PubMed1986

Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.

The thyroglobulin gene has been mapped to chromosome band 8q24 by several investigators. This is the band implicated in the causation of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome II). We have examined a restriction fragment length polymorphism at the thyroglobulin locus in a patient with Langer-Giedion syndrome and 8q deletion in order to: (1) localize the Langer-Giedion deletion more precisely, (2) define the relative map positions of the thyroglobulin gene and the Langer-Giedion locus. The results indicate that the locus of the thyroglobulin gene is intact in the patient with an interstitial deletion of proximal band 8q24.1 which confirms its more distal localization reported earlier by Bergé-Lefranc et al. (1985). It also assigns the critical region for the causation of Langer-Giedion syndrome to the proximal part of band 8q24, viz. 8q24.11----q24.13.

Child↗
PubMed1996

Hereditary spinal osteochondromas in diaphyseal aclasia.

We present cases of cervical cord compression in father and son with diaphyseal aclasia. Both patients were investigated with plain radiography, CT and MRI. We believe this to be the first report of spinal cord compression in first-degree relatives with diaphyseal aclasia.

Adolescent↗
PubMed1993

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.

Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed the clinical outcome of 108 Finnish patients. Birth length was below -2.0 SD in 70% of the patients; the adult heights ranged from -11.4 SD to -5.2 SD. The sitting height percentage was increased in all but 4 patients. Six patients had normal hair. Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and scoliosis in 21% of the patients. Defective cellular immunity had been observed in 88% and increased susceptibility to infections in 56% of the patients. Six patients had died of primary infections. The incidence of malignancies was 6%. Childhood anaemia had occurred in 79% of the patients. It was usually mild, but severe in 14 patients. Hirschsprung disease had been observed in 8, anal stenosis in 1 and oesophageal atresia in 1 patient. The intrafamilial variation of the syndrome was considerable as studied in 16 sibships.

Body Height↗
PubMed1997

[Torus mandibularis].

Solitary or bilateral, symptomless exostoses on the lingual surface of the mandibule are called mandibular torus. It is mainly seen in young males and has a benign clinical course. The etiopathology is not known. Both genetic and environmental factors such as the anatomy of the lower jaw are considered. Syndromes associated with facial exostoses such as Proteus syndrome or Gardner's syndrome should be clinically excluded. A 40-year-old man with exostoses of the jaw is reported. With this case report we would like to draw attention to a disease which has rarely been described in the German dermatological literature.

Adult↗
PubMed1997

Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864.

Four members of a family - three of whom have facial features mildly resembling those of the trichorhinophalangeal syndrome, type I, and all of whom manifested appendicular bony prominences similar to trichorhinophalangeal syndrome, type II - were found to have the radiographic findings of metachondromatosis. The radiographic manifestations and evolution of metachondromatosis are depicted in this report.

Adult↗
PubMed2003

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs, including a disorder affecting the N-glycosylation of erythrocytes, congenital dyserythropoietic anemia type II (CDA II/HEMPAS), and the first disorders affecting O-glycosylation. Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended.

Anemia, Dyserythropoietic, Congenital↗