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At least 721 records · Page 40Linked to original sources
PubMed2004

A rare brachial artery pseudoaneurysm 13 years after excision of a humeral osteochondroma.

Pseudoaneurysms resulting from vascular impingement by osteochondromas are extremely rare. The authors detail the case of a 19-year-old man who represents the third known report in the English literature of a brachial artery pseudoaneurysm associated with a humeral osteochondroma. In patients presenting with a painful upper arm mass and a history of multiple hereditary exostoses, one must have a high index of suspicion for pseudoaneurysm.

Adult↗
PubMedDate not supplied

Mechanical induction of osteogenesis: the importance of pin rigidity.

Eight dogs, divided into two groups of four by varying pin rigidity, underwent 15% left tibial lengthening by the Ilizarov method. In group I, "tensioned" 1.6-mm wires maintained a rigidity approaching that of 4.0-mm pins. In group II, the wires, maintained at half the tension, averaged 45% of the rigidity measured in group I. All dogs in group I filled the experimental gap with de novo osteogenesis, whereas all of the dogs in group II prematurely bridged the gap, arresting the process of osteogenesis. From these experimental results, clinical trials have been started using commercially available external fixation devices utilizing pins with equivalent rigidity.

Adolescent↗
PubMed2006

A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep.

Ovine hereditary chondrodysplasia, or spider lamb syndrome (SLS), is a genetic disorder that is characterized by severe skeletal abnormalities and has resulted in substantial economic losses for sheep producers. Here we demonstrate that a non-synonymous T>A transversion in the highly conserved tyrosine kinase II domain of a positional candidate gene, fibroblast growth factor receptor 3 (FGFR3), is responsible for SLS. We also demonstrate that the mutant FGFR3 allele has an additive effect on long-bone length, calling into question the long-standing belief that SLS is inherited as a strict monogenic, Mendelian recessive trait. Instead, we suggest that SLS manifestation is determined primarily by the presence of the mutant FGFR3 allele, but it is also influenced by an animal's genetic background. In contrast to FGFR3 mutations causing dwarfism in humans, this single-base change is the only known natural mutation of FGFR3 that results in a skeletal overgrowth phenotype in any species.

Amino Acid Sequence↗
PubMed1985

A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome.

A 10-month-old infant with failure to thrive, delayed development, mild dysmorphia, cardiac anomalies, and cryptorchidism was referred for cytogenetic evaluation. Routine GTG-banded analysis revealed a modal number of 46 chromosomes, which contained an obvious complex rearrangement involving chromosomes 1, 8, and 14. Parental chromosomes were normal. Following high resolution techniques, this de novo rearrangement demonstrated an intraband deletion and was designated as [46,XY,t(1;8;14)(1pter----1p13.1::14q12----14pter++ +;1qter----1p13.1::8q24.13----8qter; 14qter----14q12::8p23.3----8q24.11:)]. Although deletions have been implicated as possibly responsible for abnormal phenotypes in patients with de novo "balanced rearrangements", in most cases, they could not be demonstrated. The present case is only the second instance documenting a subtle intraband deletion in association with a complex translocation. Fourteen of the reported 18 patients with an 8q deletion (including this infant) have Langer-Giedion syndrome, suggesting an etiologic relationship. However, the same deletion is not present in all cases.

Chromosome Banding↗
PubMed1987

Langer-Giedion syndrome with del 8 (q24.13-q24.22).

An 8-year-old boy with the features of Langer-Giedion syndrome except for short stature is described. Chromosome analysis using high resolution G-banding techniques revealed an interstitial deletion of the long arm of chromosome 8:46,XY,del(8)(q24.13-q24.22).

Child↗
PubMed1991

Metaphyseal acroscyphodysplasia.

Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup-shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested. The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. The radiological aspect of the knees is very specific: the lower femoral and upper tibial epiphyses embed themselves in their metaphyses, which are severely cup-shaped. Premature central epiphyso-metaphyseal fusion and gross deformation, or even coalescence, of the femoral condyles may occur. The femoral diaphyses are very short and broad, and there is progressive coxa valga. Bowed and/or short stubby tibiae with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint are other features. Slight deformations of the long bones occur in the upper limb. Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement. Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely.

Bone and Bones↗
PubMed2006

Fibrodysplasia ossificans progressiva. An unusual cause of restricted mandibular movement.

A 9-year-old girl is presented who was initially misdiagnosed and finally diagnosed with fibrodysplasia ossificans progressiva only after presentation with progressive limitation of her mouth opening. The clinical, histopathological, and molecular biological aspects of this uncommon disorder will be discussed. Furthermore, dental and surgical guidelines will be described.

Child↗