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At least 145 records · Page 8Linked to original sources

Distraction osteogenesis in congenital limb length discrepancy: a review.

This paper reviews the technique of callotasis used to correct limb length discrepancy due to congenital causes. Many more lower than upper limb lengthening procedures have been reported. Despite the low complication rate reported by the originators of the technique, patients undergoing limb lengthening because of congenital problems are at significant risk of pin tract sepsis, joint contracture, nerve palsies, angular deformities and fracture through the regenerate bone. A minority of studies focus specifically on limb lengthening for congenital defects. Most series simply include some congenital patients, but it is difficult to retrieve the data, and to generalize from them. The amount of lengthening with an acceptable complication rate should not exceed 25%; of the initial bone length. Even using circular frames with small pins, practically all patients may be expected to develop at least one complication each, ranging from pin tract infection to the necessity of carrying out additional unplanned operative procedures either during or after the treatment period. The prevalence of major complications seems to be correlated with the complexity and the duration of the treatment. The functional outcome and the psychological problems associated with a lengthy procedure, which may require long periods of repeated hospitalization, have only rarely been studied. However, it appears that prolonged strength loss is frequent, and that significant psychological morbidity is experienced. Patients and their families should be counselled before and during the procedure on these lesser known aspects of callotasis lengthening.

Arm↗

Magnetic resonance imaging of the spine in bone dysplasias and related disorders.

This article discusses the role of magnetic resonance imaging in orthopedic and neurosurgical complications of the spine in developmental disease of bone. The importance of a basic knowledge of spinal deformities in dysplasias and related disorders is stressed, and on the basis of a simple classification, a differential diagnostic list for each category is presented and illustrated with some common disorders.

Bone Diseases, Developmental↗

Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.

The phalangeal cone shaped epiphysis of the hands (PhCSEH) observed in the extended Saldino-Mainzer syndrome (SMS), including nephronophthisis, are typed in accordance with standard tables. Of the more than 40 known types, type 28 and/or 28A were found in all eight cases available for analysis, frequently also associated with types 38, 38A, 37 and others. Similar PhCSEH are also observed in asphyxiating thoracic dysplasia (ATD), as well as in some cases of peripheral dysostosis combined with dwarfism. The striking similarity of the PhCSEH formula in our eight cases and of some cases of ATD, all suffering from chronic renal disease, suggests a common pathogenetic pathway of these conditions. The collective name of "conorenal syndromes" is suggested.

Adolescent↗

Acroosteolysis. Problems of diagnosis--report of four cases.

Four cases of idiopathic acroosteolysis are reported. The first is a common phalangeal type, the second, the Hozay variety. The third case was diagnosed after a mumps infection, and marked regress of the changes was noted in the following years. The fourth case shows skin changes, periostitis, mild osteosclerosis, and skull changes as well as acroosteolysis.

Bone Diseases, Developmental↗

Orbit deformities in craniofacial neurofibromatosis type 1.

BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. Our purpose was to review orbital changes in patients with craniofacial NF1. METHODS: We retrospectively reviewed CT and MR imaging abnormalities of the orbit in 31 patients (18 male, 13 female; mean age, 14 years; age range 1-40 years) with craniofacial NF1. RESULTS: Orbital abnormalities were documented in 24 patients. Six had optic nerve gliomas with enlarged optic canals. Twenty had PNFs in the orbit or contiguous to the anterior skull. The posterior orbit was distorted by encroachment from an expanded middle cranial fossa in 13 patients, and 18 had enlargement of the orbital rim. Other changes included focal decalcification or remodeling of orbital walls adjacent to PNFs in 18 patients and enlargement of cranial foramina resulting from tumor infiltration of sensory nerves in 16. These orbital deformities were sometimes progressive and always associated with orbital infiltration by PNFs. CONCLUSION: In our patients with craniofacial neurofibromatosis, bony orbital deformity occurred frequently and always with an optic nerve glioma or orbital PNF. PNFs were associated with orbital-bone changes in four patterns: expansion of the middle cranial fossa into the posterior orbit, enlargement of the orbital rim, bone erosion and decalcification by contiguous tumor, and enlargement of the cranial foramina. Orbital changes support the concept of secondary dysplasia, in which interaction of PNFs with the developing skull is a major component of the multifaceted craniofacial changes possible with NF1.

Adolescent↗

Seckel's syndrome: presentation of one case associated with Legg-Calvé-Perthes disease.

The authors present the case of one patient affected with Seckel's syndrome which came to their observation as a result of pain in the hip with limping, diagnosed after Legg-Calvé-Perthes disease. There seems to be an accidental relationship between the two diseases, although Legg-Calvé-Perthes disease is frequently described in all cases of endocrinous dwarfism.

Abnormalities, Multiple↗

Simultaneous correction of pelvic obliquity, frontal plane, and sagittal plane deformities in neuromuscular scoliosis using a unit rod with segmental sublaminar wires: a preliminary report.

Ten patients with neuromuscular scoliosis and pelvic obliquity had segmental spinal instrumentation using a unit Luque rod with sublaminar wires and fixation into the pelvis. Nine of the 10 patients also had anterior spinal fusion without instrumentation before the posterior procedure. Average preoperative pelvic obliquity was 42 degrees which was corrected to 6 degrees (82% correction). Average preoperative scoliosis was 92 degrees, which was corrected to 16 degrees (81% correction). Complications included a wound hematoma in one patient and a superficial wound dehiscence in another. There have been no pseudarthroses or hardware failures to date. Excellent correction of the pelvic obliquity and the spinal curve in neuromuscular scoliosis can be obtained with use of a unit rod and without use of anterior instrumentation.

Adolescent↗

Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist.

Sclerosteosis, a skeletal disorder characterized by high bone mass due to increased osteoblast activity, is caused by loss of the SOST gene product, sclerostin. The localization in bone and the mechanism of action of sclerostin are not yet known, but it has been hypothesized that it may act as a bone morphogenetic protein (BMP) antagonist. We show here that SOST/sclerostin is expressed exclusively by osteocytes in mouse and human bone and inhibits the differentiation and mineralization of murine preosteoblastic cells (KS483). Although sclerostin shares some of the actions of the BMP antagonist noggin, we show here that it also has actions distinctly different from it. In contrast to noggin, sclerostin did not inhibit basal alkaline phosphatase (ALP) activity in KS483 cells, nor did it antagonize BMP-stimulated ALP activity in mouse C2C12 cells. In addition, sclerostin had no effect on BMP-stimulated Smad phosphorylation and direct transcriptional activation of MSX-2 and BMP response element reporter constructs in KS483 cells. Its unique localization and action on osteoblasts suggest that sclerostin may be the previously proposed osteocyte-derived factor that is transported to osteoblasts at the bone surface and inhibits bone formation.

Adaptor Proteins, Signal Transducing↗