Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-year-old boy developed an abnormality of the forearm and wrist characterized by asymmetrical overgrowth, premature ossification of the distal ulnar epiphysis, shortening of both bones of the forearm, dorsal bowing of the ulna and formation of an enlarged lunate from 2 ossification centers. The eccentric overgrowth of the distal ulnar epiphysis was similar to the abnormality seen in dysplasia epiphysealis hemimelica of the long bones of the lower limbs, tarsal and carpal bones.
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PMID:Dysplasia epiphysealis hemimelica of the ulna. 70 49

Of all the bony anomalies of the pelvis, unilateral developmental disturbances of the body of the iliac bone and the lateral parts of the os sacrum mainly affect the statics of the vertebral column. After a short description of the normal development of the os coxae and os sacrum, an attempt is made to systematize these anomalies and explain them from a developmental point of view. This is achieved by studying anatomical specimens and clinical cases. Primary disturbances concerning the growing of the cartilaginous epiphysis itself or secondary disturbances, which result from unilateral muscular palsy, can be responsible for retarded development of the body of the iliac bone. Unilateral dysplasia of the lateral part of the os sacrum could be based on disturbances of the precartilage. This is also thought to be the reason for asymmetrical formations of so-called transitional vertebrae.
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PMID:[Pelvic abnormalities affecting the statics of the vertebral column]. 223 59

Angular deformities of the distal radius of 15 sheep were induced by asymmetrical epiphysial distraction. Eleven sheep were between 10 and 20 weeks old; four were older than 24 weeks. Gradual distraction on the medial side of the limb caused partial separation of the epiphysis from the metaphysis, resulting in a valgus deformity. The distraction device was removed three to six weeks after insertion. Spontaneous correction of angulation with growth occurred in the younger sheep; but when the induced valgus angle exceeded 20 degrees correction was poor. In two sheep further distraction was applied on the lateral side and this produced complete correction. Premature closure of epiphyses did not occur after distraction and longitudinal growth of the bone remained normal. In the older sheep asymmetrical distraction succeeded in inducing angulation in only one case, and correction was poor.
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PMID:Experimental epiphysial distraction producing and correcting angular deformities. 674 98

Tibia vara (Blount's disease) is characterized by two components, the epiphyseal, which is concerned with articular relationships, and physeal/metaphyseal, which may produce angulation of a long bone. Although the initial etiology is not known, it appears that asymmetrical pressure applied to the angulated proximal tibia results in progressive deformity. In the initial stages, medial and posteromedial pressure causes growth retardation of the epiphysis (articular instability) and the physis (tibia vara). Nonsurgical or surgical treatment that relieves the pressure generally permits reconstitution of normal growth. Continued abnormal pressure and shear forces applied to the physis may result in disorderly enchondral ossification and produce a true osteochondrosis, which may lead to permanent physeal arrest. Osteotomy alone to relieve medial pressure may allow the tibia to grow straight, but residual medial epiphyseal compression and joint instability may persist. A case is reported of a 13 1/2 year follow-up of a patient in whom intraepiphyseal osteotomy restored articular congruity without interfering with longitudinal growth. The risks and experimental nature of this procedure are emphasized.
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PMID:Intraepiphyseal osteotomy for progressive tibia vara: case report and rationale of management. 707 38

We reviewed the cases of eight unrelated children who had an unusual form of enchondromatosis characterized by unilateral enchondromas arising within the epiphyseal and metaphyseal regions of the long tubular bones of the lower extremity. Unlike previously described enchondromas, the lesions developed extensively within the epiphysis before closure of the growth plate and there was direct extension across the epiphyseal growth plate into the metaphysis. The lesions resulted in severe limb-length discrepancy and angular deformity (which increased in every patient after the time of presentation), asymmetrical premature physeal arrest, and joint incongruity, all of which necessitated numerous operative procedures. Seven patients had limb-lengthening and one had a Boyd amputation without lengthening. Five patients had a second lengthening procedure. Twenty-seven osteotomies (range, one to five procedures per patient) were done; six patients had a repeat osteotomy. Four patients had an epiphyseodesis. We believe that these lesions represent a previously undescribed clinical entity, which we termed epiphyseal-metaphyseal enchondromatosis.
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PMID:Epiphyseal-metaphyseal enchondromatosis. A new clinical entity. 965 96

Two young patients, one female and one male, with asymmetric occlusal deviation and extreme Angle Class II division 1 malocclusions were treated with the Herbst appliance after cessation of endochondral growth (union of the radius epiphysis). During treatment, computer tomographic (CT) scanning and orthopantomograms of the temporomandibular joints (TMJs) revealed, as a result of bone modelling, asymmetrical new bone formation as a double contour on the distocranial part of the condyles. The treatment results were followed for more than 2 years and the new bone was found to be stable.
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PMID:Computer tomographic and radiographic changes in the temporomandibular joints of two young adults with occlusal asymmetry, treated with the Herbst appliance. 1121

The current classification of metacarpal synostosis is based on the extent of the synostosis. The authors propose a new classification that takes into account the shape of the metacarpal bones, the curvature of the epiphysis, and the discrepancy in length between the two bones. This classification provides better guidelines for the correction of all components of the deformity. The classification is based on the authors' observations of and experience with 36 cases of metacarpal synostosis; 13 of the deformities were surgically corrected. The I-shaped deformity, whether with distinct (type d) or fused (type f) metacarpophalangeal joints, does not require surgical correction. The U-shaped deformity has parallel epiphysis and does not require surgery unless the two metacarpals are asymmetrical in length (type a) or tightly fused (type t); in these cases, simple lengthening or widening of the space with a bone graft is sufficient. Y-shaped synostosis should be separated whether the branches are symmetrical or asymmetrical, the latter having one branch shorter than the other. Because the epiphyses are already divergent, simple separation does not effectively correct Y-shaped synostosis. The authors propose an osteotomy to isolate a trapezoidal segment of bone from the bifurcation. The isolated bone segment is then reversed in the proximal-distal direction to provide a "plateau" upon which the two distal metacarpals can be realigned. Two cases of Ys (symmetrical) synostosis were successfully treated with this technique; one case of Ya (asymmetrical) synostosis also required distraction lengthening of the shorter metacarpal to achieve an excellent result. One of the most difficult types of metacarpal synostosis to treat is k-shaped synostosis, observed only between the fourth and fifth metacarpals; in this type, the head of the short fifth metacarpal abuts the metaphysis of the fourth. Osteotomy and distraction lengthening provide predictable results for correction of this deformity. The authors suggest that k-shaped synostosis might represent a late evolution of untreated Ua synostosis.
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PMID:Metacarpal synostosis: a simple classification and a new treatment technique. 1160 23

Report on 6 individuals, occurring in three successive generations of a single family, who were affected by "classical" tricho-rhino-phalangeal syndrome type I. Besides pear-shaped noses, enlarged philtrum, hypotrichosis, premature alopecia, coned epiphysis at the proximal interphaleangeal joints with consecutive ulnar deviation of the long fingers, dysostotic feet, Perthes-like hip dysplasia with multilocated joint laxity and hyposomia were impressing. Height was 168 cm, corresponding to the 50 (th) percentile. Radiographs and 3D-reconstruction of both hands showed asymmetrical brachymetacarpia, brachymesophalangia and painful invaginations of the middle phalanx bases (type 12 according to Giedion). Angular deformities are seen predominantly in the index finger decreasing to the ring finger. Painful cone-shaped epiphyses with ulnar dislocation of the PIP joints were stabilized following resection arthrodesis with tension band osteosynthesis. At reexamination 48 months postoperatively a painfree and powerful pinch grip function of both hands was restored. All family members who showed the phenotypical features of TRPS type I revealed in genetic analysis also identical mutations. Inside the exon 4 in position 1831 there was a nonsens mutation C --> T. Non-afflicted relatives did not show this mutation.
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PMID:[Surgical therapy of cone-shaped epiphyses of the proximal interphalangeal joints in tricho-rhino-phalangeal syndrome type I: a survey among three successive generations of a single family]. 1561 9

Two cases of asymmetrical closure of the proximal tibial epiphysis without a clear aetiological factor were presented. In both cases premature closure of the growth plate resulted in progressive recurvatum and valgus deformity of the knee with leg length discrepancy. The correction of deformity was obtained using Taylor Spatial frame with excellent results at 2 years follow-up. We hypothesize that repetitive trauma or chronic overloading during sports activities might be a factor of growth arrest in reported cases. Orthopedic surgeons should be aware of the possibility of subtle physeal injuries, causing angular deformities, in the cases of even minor knee trauma in skeletally immature population.
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PMID:Growth arrest of the proximal tibial physis with recurvatum and valgus deformity of the knee. 1944 61

The prevalence of developmental asymmetry between left and right sides of the body in the third molar tooth and medial clavicular epiphysis is examined in a contemporary Australian population (92% Caucasian). The contention that differences between left and right side developmental timing is statistically insignificant, and can therefore be ignored in forensic age estimation procedures, is questioned. It was found that of a population sample of 604 individuals, 177 displayed asymmetrical timing in development between antimeres of the third molar, the medial clavicle or both. There was no correlation found between the third molar tooth and medial clavicular epiphysis in terms of left/right synchronicity. For those individuals differing in development by two or more developmental stages in either age marker or one stage in both age markers, the effect upon the accuracy of forensic age estimations can be significant. Differences in age estimates for each side were as much as 3.1 years. Age estimations based on one side only may not provide the best estimate for an individual, and more accurate results can be achieved if both sides are taken into consideration. A protocol for dealing with asymmetrical development is discussed with reference to the multifactorial age estimation method proposed by the same authors in previous research.
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PMID:The incidence of asymmetrical left/right skeletal and dental development in an Australian population and the effect of this on forensic age estimations. 2194 31


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