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PubMedDate not supplied

Type I Monteggia fracture dislocation associated with ipsilateral distal radial epiphyseal injury.

SUMMARY: Ipsilateral elbow and wrist injuries are rare in children. We present a previously undescribed case of a Bado Type I Monteggia fracture with a Salter-Harris Type II epiphyseal injury of the distal radius. A satisfactory result was achieved but required surgical intervention. Complete diagnostic evaluation is imperative to avoid missed injuries and achieve satisfactory outcome.

Bone Plates↗
PubMed1991

Multiple epiphyseal dysplasia misdiagnosed as bioinactive growth hormone disorder.

We have reported a case of multiple epiphyseal dysplasia (MED) that was misdiagnosed for many years as bioinactive growth hormone disorder. The condition was misdiagnosed because of its rarity and the physicians' lack of familiarity with it. MED should be considered in the differential diagnosis of a child with short stature and delayed growth. Close follow-up of a patient receiving growth hormone is necessary.

Child↗
PubMed1998

Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome.

Abnormalities, Multiple↗
PubMed1997

Nerves in human epiphyseal uncalcified cartilage.

Increasing evidence demonstrates clinical and neuroendocrine regulation of the skeletal system. We have demonstrated nerve fibers in cartilage canals in human fetal epiphyseal uncalcified cartilage. We investigated specimens from the femur, the proximal tibia, and the humerus from 12 human bodies with an age from the 22nd gestational week to 13 months after birth. We performed Bodian silver staining, Klüver-Barrera staining, and immunostaining for neurofilaments, myelin basic protein. S-100 protein, and vimentin. We observed positive Bodian staining and immunoreaction to neurofilaments in all specimens older than the 30th week of gestational age. Myelin or Schwann cells could not be demonstrated, nor could mechanoreceptors. This indicates a traditional classification as type C nerve fibers with sensory or sympathetic function. In skeletal nerves, an increasing number of neuropeptides influencing bone cells has been detected. The nerves in the cartilage canals may have functions such as regulation of developmental or pathological processes.

Fetus↗
PubMedDate not supplied

Microscopic examination of a naturally occurring epiphyseal plate fracture.

We had the opportunity to examine a naturally occurring Salter-Harris Type I fracture in the distal tibia of a 9-year-old boy. The injury was simultaneous with traumatic amputation of the extremity a few centimeters distal to the knee. The epiphyseal plate was examined microscopically, and the plane of cleavage was found not to be uniform, but to involve the zones of resting, proliferating, hypertrophying, and provisionally calcified cartilage cells. We hope by demonstrating the inconsistency of the cleavage plane in this case to assist in understanding the complexity of physeal fractures and the unpredictable results that occasionally occur.

Child↗
PubMed1986

In vivo degradation systems of the epiphyseal cartilage.

Accumulated evidence suggests that in the growth cartilage during endochondral ossification, proteoglycans in the extracellular matrix of the lower hypertrophic zone are degraded by proteases and removed before mineralization. Neutral protease activity in the human growth cartilage was demonstrated recently, with the highest levels in the hypertrophic and calcified zones. In this study, in an in vivo model, proteoglycans in the epiphyseal cartilage are cleaved at specific sites in the protein core by enzymes acting similar to neutral metallo-proteases. Prelabeled growth cartilage (35S) chondrocytes, grown in vitro, were transplanted as an allograft to fill a defect in the proximal tibial plate of immature New Zealand white rabbits and then extracted at different time intervals. Degradation of these proteoglycans was determined by gel chromatography on Sepharose 2B columns under associative and dissociative condition. This was compared to in vivo degradation patterns of flash-labeled native growth cartilage proteoglycan. Both the in vivo labeled material and the in vitro labeled transplants appear to be degraded into smaller fragments over time. This study provides further proof that the degradation of proteoglycans does occur in vivo and that this process is an important element in the preparation of bone for mineralization. Control of degradation may alter growth processes.

Animals↗
PubMedDate not supplied

Avascular necrosis of the hip in multiple epiphyseal dysplasia.

We observed radiographic changes of avascular necrosis (AVN) of the capital femoral epiphysis in 9 hips of 11 patients with multiple epiphyseal dysplasia (MED). Plain roentgenography, bone scintigraphy, and magnetic resonance imaging (MRI) studies all revealed characteristic asymmetric changes in the presence of AVN superimposed on dysplastic femoral heads.

Child↗
PubMedDate not supplied

Determination of medial epicondylar epiphyseal angle for supracondylar humeral fractures in children.

A new radiographic angle, the medial epicondylar epiphyseal (MEE) angle, was studied in 100 anteroposterior (AP) radiographs of normal children aged 3-12 years. The mean value was 38.2 degrees +/- 4.17 degrees (SD) (range 25 degrees-46 degrees), and the MEE angle could be drawn satisfactorily in 96 radiographs. The MEE angle did not vary significantly from this value in 25 Jones' view radiographs (paired t test, t = 0.06). The MEE angle was useful in assessing the accuracy of reduction of 20 supracondylar fractures of the humerus with satisfactory final results.

Child↗
PubMed1991

Electron spectroscopic diffraction and imaging of the early and mature stages of calcium phosphate formation in the epiphyseal growth plate.

A review of different models of biomineralization in collagen-rich hard tissues shows that further investigations of crystal formation are necessary. The electron spectroscopic diffraction (ESD) mode of operation of an energy-filtering electron microscope offers the possibility of being able to avoid the background from inelastic scattering in selected-area electron diffraction patterns. First experiments on the different stages of mineralization in the epiphyseal growth plate have only indicated the presence of apatite. The ESD mode can be complemented by the electron spectroscopic imaging mode and by elemental mapping of calcium.

Animals↗
PubMed1978

Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness.

An Afrikaner kindred in South Africa had a dominantly inherited skeletal dysplasia-blindness-deafness syndrome. The affected individuals had reduced stature and a round, flattened facies. The bone changes resembled multiple epiphyseal dysplasia with additional minor abnormalities in the phalanges, femoral heads and spine. Progressive myopia, retinal thinning and crenated cataracts led to visual disturbance, while conductive deafness represented the third component of the triad. The syndromic significance of associated asteroid hyalosis is uncertain.

Abnormalities, Multiple↗
PubMed1982

Wagner's vitreoretinal degeneration with generalized epiphyseal dysplasia.

Wagner's vitreoretinal degeneration, midline facial defects and a moderate generalized epiphyseal dysplasia defined radiologically were encountered in a boy and his father. The familial nature of the condition and its autosomal dominant inheritance are described. Suggestions are made that patients said to have Wagner's disease differ in no way radiologically from cases diagnosed as having Stickler's syndrome.

Adolescent↗
PubMed1987

Cytochemical localization of thiamine pyrophosphatase and nicotinamide adenine dinucleotide phosphatase activities in rat epiphyseal chondrocytes.

Two phosphatase activities, which have been reported to be associated with the Golgi apparatus in several cellular types, have been cytochemically demonstrated in rat epiphyseal cartilage. This was the case for thiamine pyrophosphatase (TPPase) which was detected in Golgi trans face cisternae and also in nascent or immature secretory granules of chondrocytes. beta-Nicotinamide adenine dinucleotide phosphatase (beta-NADPase), on the other hand, was localized mainly in the endoplasmic reticulum region of both proliferative and hypertrophic chondrocytes. Most of the beta-NADPase reaction was shown to be associated with the cytoplasmic side of the rough endoplasmic reticulum membranes and also partially dispersed throughout the cytosol background. We suggest that beta NADPase in chondrocytes could be an enzyme with different properties from that described in other secretory cells.

Animals↗
PubMed1987

Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.

A family is presented with short stature, femoral epiphyseal dysplasia, mild vertebral changes, and sensorineural deafness inherited as an autosomal dominant trait. Myopia and retinal detachment presenting in adult life were also present in some affected members. We suggest that this disorder may be a distinct entity within the spondyloepiphyseal dysplasia group of disorders.

Abnormalities, Multiple↗
PubMed2001

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

BACKGROUND: We have previously described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family. The MED observed seems to be part of a larger malformation syndrome, since both craniofacial and central nervous system changes were present in the family. We performed a whole genome scan in this family in order to identify the gene locus for this malformation syndrome. METHODS AND RESULTS: Using homozygosity mapping, we show linkage to the telomeric region of the long arm of chromosome 15. The position of both the disease gene and the principal glycoprotein, chondroitin sulphate proteoglycan (aggrecan, AGC1) on chromosome 15q26, suggested that the aggrecan gene is a candidate for the disease in this family. However, three of the four affected children were heterozygous for a polymorphism at position 831 of the coding sequence of AGC1, providing strong evidence against its involvement. CONCLUSION: We have identified a gene locus for a recessive syndrome of macrocephaly, MED, and distinctive facies in a large Omani family. Aggrecan located on chromosome 15q26, within the critical region determined for this syndrome in this family, was excluded as a candidate gene.

Abnormalities, Multiple↗
PubMed2002

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

A large family with dominantly inherited rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia, resulting in brachydactyly was linked to COL2A1, the gene encoding proalpha1(II) collagen. Mutational analysis of the gene by exon sequencing identified a novel mutation in the C-propeptide region of the molecule. The glycine to aspartic acid change occurred in a region that is highly conserved in all fibrillar collagen molecules. The resulting phenotype does not fit easily into pre-existing subgroups of the type II collagenopathies, which includes spondyloepiphyseal dysplasia, and the Kniest, Strudwick, and Stickler dysplasias.

Adult↗
PubMed1987

Tibial bowing exacerbated by partial premature epiphyseal closure in sex-linked hypophosphatemic rickets.

Two girls with sex-linked hypophosphatemic rickets are described in whom premature fusion of the medial proximal tibial epiphyseal plate exacerbated lower-extremity bowing. Early recognition of this complication and appropriate surgical intervention--excision of the bony bridge in the growth plate, or epiphysiodesis of the still open portion of the growth plate--might prevent further shortening or deformity of the affected limb.

Adolescent↗