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Margot I Van Allen - One of the best experts on this subject based on the ideXlab platform.

  • mixed sclerosing Bone Dysplasia small stature seizure disorder and mental retardation a syndrome
    American Journal of Medical Genetics, 1995
    Co-Authors: Stanislava B. Jurenka, Margot I Van Allen
    Abstract:

    We present a 40-year-old man with mental retardation, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with melorheostosis (mixed sclerosing Bone Dysplasia, MSBD). Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by fluorescence in situ hybridization (FISH) of fibroblast cells. To our knowledge, the association of MSBD and mental retardation has not been previously reported. © 1995 Wiley-Liss, Inc.

Stanislava B. Jurenka - One of the best experts on this subject based on the ideXlab platform.

Hui Wang - One of the best experts on this subject based on the ideXlab platform.

  • subchondral Bone Dysplasia mediates susceptibility to osteoarthritis in female adult offspring rats induced by prenatal caffeine exposure
    Toxicology Letters, 2020
    Co-Authors: Xingkui Xie, Hao Xiao, Yinxian Wen, Yang Tan, Jacques Magdalou, Liaobin Chen, Hui Wang
    Abstract:

    Our previous studies confirmed that prenatal caffeine exposure (PCE) could induce susceptibility to osteoarthritis in adult offspring rats due to poor chondrocyte differentiation, but its mechanism remains to be further investigated. This study aimed to explore whether subchondral Bone Dysplasia mediates susceptibility to osteoarthritis in adult offspring rats induced by PCE. Pregnant Wistar rats were treated with caffeine (120 mg/kg.d) or saline from gestational day (GD) 9 to 20. The female offspring were euthanized to collect femurs at GD20, postnatal week (PW) 6, and PW28 (non-ovariectomy and ovariectomy groups) to detect osteoarthritis-like phenotype, subchondral Bone mass, ossification center development, and other evidence. The results showed that PCE increased the Mankin score of pathological articular cartilage, but decreased articular cartilage thickness and subchondral Bone mass, which were more obvious after ovariectomy. Meanwhile, the correlation analysis results demonstrated that the Mankin score of articular cartilage was significantly negatively correlated with subchondral Bone mass, and the thickness of articular cartilage was significantly positively correlated with subchondral Bone mass. Further, the length and area of the primary and secondary ossification centers, the number of osteoblasts, and the related genes' expression of osteogenic differentiation (e.g., Runx2, BSP, ALP, and OCN) were all significantly decreased in the PCE group before and after birth. Taken together, PCE induced susceptibility to osteoarthritis in adult female offspring, which was likely related to the subchondral Bone Dysplasia and reduction of subchondral Bone mass production due to developmental disorder of primary and secondary ossification centers caused by osteoblast differentiation disability before and after birth.

  • Subchondral Bone Dysplasia partly participates in prenatal dexamethasone induced-osteoarthritis susceptibility in female offspring rats.
    Bone, 2020
    Co-Authors: Hao Xiao, Xingkui Xie, Yinxian Wen, Yang Tan, Yangfan Shangguan, Jacques Magdalou, Hui Wang, Liaobin Chen
    Abstract:

    Abstract Prenatal dexamethasone exposure (PDE) induces developmental toxicities of multi-organs and susceptibility to multi-diseases in offspring. However, the effects of PDE on osteoarthritis susceptibility in adult offspring and its mechanism have not been reported. In the present study, we treated pregnant Wistar rats with dexamethasone (0.2 mg/kg) daily on gestational days (GD) 9–20. Some pregnant rats were sacrificed on GD20, and the rest were delivered to obtain the postnatal offspring. The adult female offspring rats were performed with ovariectomy or sham operation during postnatal weeks 22–28. We found that PDE led to osteoarthritis phenotypes in articular cartilage and an increase in modified Mankin's score, but reduced the cartilage thickness in female adult offspring rats, which were more evident after ovariectomy. Moreover, PDE reduced the Bone mass of subchondral Bone in female adult offspring, which was aggravated by ovariectomy. The correlation analysis results indicated that the osteoarthritic phenotype and cartilage thickness were closely associated with the decreased Bone mass of subchondral Bone induced by PDE. Further, PDE retarded the development of primary and secondary ossification centers, then led to subchondral Bone Dysplasia, which could be partly mediated by the inhibited osteogenic function before and after birth. Collectively, the subchondral Bone Dysplasia partly participated in osteoarthritis susceptibility induced by PDE in female offspring rats.

Bart L. Clarke - One of the best experts on this subject based on the ideXlab platform.

  • Melorheostosis: a Rare Sclerosing Bone Dysplasia
    Current Osteoporosis Reports, 2017
    Co-Authors: Anupam Kotwal, Bart L. Clarke
    Abstract:

    Purpose of Review Melorheostosis is a rare sclerosing Bone Dysplasia that affects both cortical Bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. Recent Findings Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series. Melorheostosis affects the appendicular skeleton more commonly than the axial skeleton and usually presents with lower limb deformity. Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing Bone Dysplasias. LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary Dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. The exact etiology of classic sporadically occurring melorheostosis remains unknown, with possible causes being somatic LEMD3 mutations, somatic mutations in the Bone morphogenetic protein/transforming growth factor-beta pathway, mutations in multiple genes, or other non-genetic causes. Management in recent years has involved nitrogen-containing bisphosphonates in addition to traditional orthopedic surgical approaches and physical therapy. Summary Melorheostosis may present as mixed or atypical osseous involvement in addition to the classically described “dripping candle wax” appearance of hyperostosis. Some patients may have overlap with osteopoikilosis or Buschke–Ollendorff syndrome. In the future, better characterization of genetic and developmental factors predisposing to melorheostosis may lead to the development of targeted therapy for this condition, as well as for more commonly encountered skeletal abnormalities.

  • melorheostosis a rare sclerosing Bone Dysplasia
    Current Osteoporosis Reports, 2017
    Co-Authors: Anupam Kotwal, Bart L. Clarke
    Abstract:

    Melorheostosis is a rare sclerosing Bone Dysplasia that affects both cortical Bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series. Melorheostosis affects the appendicular skeleton more commonly than the axial skeleton and usually presents with lower limb deformity. Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing Bone Dysplasias. LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary Dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. The exact etiology of classic sporadically occurring melorheostosis remains unknown, with possible causes being somatic LEMD3 mutations, somatic mutations in the Bone morphogenetic protein/transforming growth factor-beta pathway, mutations in multiple genes, or other non-genetic causes. Management in recent years has involved nitrogen-containing bisphosphonates in addition to traditional orthopedic surgical approaches and physical therapy. Melorheostosis may present as mixed or atypical osseous involvement in addition to the classically described “dripping candle wax” appearance of hyperostosis. Some patients may have overlap with osteopoikilosis or Buschke–Ollendorff syndrome. In the future, better characterization of genetic and developmental factors predisposing to melorheostosis may lead to the development of targeted therapy for this condition, as well as for more commonly encountered skeletal abnormalities.

E. M. Azouz - One of the best experts on this subject based on the ideXlab platform.

  • Bone Dysplasia series melorheostosis review and update
    Canadian Association of Radiologists journal, 1999
    Co-Authors: A Greenspan, E. M. Azouz
    Abstract:

    Abstract Melorheostosis is a rare nongenetic developmental anomaly first described in 1922 by Leri and Joanny. Its etiology is unknown. Patients present at any age, and both sexes are affected equally. Onset is usually insidious, with deformity of the extremity, pain, limb stiffness and limitation of motion in the joints first manifesting in late childhood or early adolescence and progressing into adult life. The characteristic radiographic appearance consists of irregular hyperostotic changes of the cortex, generally on one side of the Bone, resembling melted wax dripping down one side of a candle. This appearance gave the anomaly its name, which is taken from the Greek words for member (melos) and flow (rhein). There is usually a distinct demarcation between the affected and normal Bone. Dense, sclerotic linear areas are seen mainly in the cortex but also extending into the cancellous Bone. Melorheostosis affects mainly the long Bones of the upper and lower limbs, but also the short Bones of the hand and foot and, rarely, the axial skeleton. It may co-exist with osteopoikilosis and osteopathia striata as well as with tumours or malformations of blood vessels or lymphatics. Soft-tissue ossifications at the site of the joint are common. Bone scintigraphy is positive and shows moderately increased uptake of tracer. Computed tomography and magnetic resonance imaging can further characterize the lesion, but rarely contribute to the diagnosis. The forme fruste of melorheostosis may mimic other conditions such as myositis ossificans, osteoma and parosteal osteosarcoma. Treatment of this chronic and sometimes debilitating condition consists of surgical soft-tissue procedures and even, in very severe cases, amputation.

  • Small patella syndrome: a Bone Dysplasia to recognize and differentiate from the nail-patella syndrome.
    Pediatric Radiology, 1997
    Co-Authors: E. M. Azouz, K. Kozlowski
    Abstract:

    We report a 5-year, 9-month-old boy with bilateral patellar hypoplasia. The radiographic skeletal survey revealed absent ossification of the ischium and inferior pubic ramus on both sides, characteristic of the newly recognized benign Bone Dysplasia known as small patella syndrome, or ischiopatellar Dysplasia. No nail change, iliac horn, elbow anomaly, or renal disease is associated with this condition.