Sample records for exostoses

  1. Genetic heterogeneity of multiple exostoses

    Energy Technology Data Exchange (ETDEWEB)

    Legeai-Mallet, L.; Munnich, A.; Le Merrer, M. [Inserm U393 Hopital des Enfants-Malades, Paris (France)] [and others


    Hereditary multiple exostoses (EXT, MIM 133700) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Three disease genes, mapping to chromosomes 8q24 and 11 have been recently localized, supporting genetic heterogeneity of this condition. We have refined the genetic mapping of the chromosome 19p locus using a series of six families unlinked to chromosomes 8 or 11. Several genes expressed during cartilage growth and located in this region have been tested as candidate genes, namely zinc finger proteins, protein kinases, JunD and JunB. Hitherto no major rearrangement of these genes has been detected in EXT families linked to chromosome 19p.

  2. Congenital multiple exostoses with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Ibrahim Aliyu


    Full Text Available Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases. It is known as hereditary multiple exostoses, hereditary multiple osteochondromas, and to fit this diagnosis, there should be at two or more exostoses; usually, long bones of cartilaginous origin such as those of the extremities are mostly affected often sparing the face, these exostoses are osteochondromas arising close to the growth plate (metaphysis and epiphysis. This communication highlights the case of a 42-day-old female delivered at the 7th month gestational age to a nonconsanguineous family setting; she was admitted with the complaint of convulsions and poor suck; she was the second of a set of twin; the first twin was essentially healthy. There was no history of fever or difficulty of breathing. The delivery was at home and she was said to be small at birth, the birth weight was not measured, and cried poorly. On examination, she was wasted with a weight of 1.4 kg, and the length was 34 cm with an occipitofrontal circumference of 29 cm. The lower limbs were malformed with exostosis arising from both shins; she also had a ventricular septal defect.

  3. Multiple exostotic hypochondroplasia: Syndrome of combined hypochondroplasia and multiple exostoses

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    Dominguez, R.; Young, L.W.; Girdany, B.R.; Steele, M.W.


    This is a report of a family with major focus on the daughter who had short stature. The mother had hypochondroplasia and the father had multiple exostoses. The daughter's skeletal roentgenograms show features of both hypochondroplasia and multiple exostoses. The roentgenographic, clinical and genetic aspects of these skeletal dysplasias are reviewed and hypochrondroplasia is contrasted with achondroplasia. The genetic and counseling implications of the association of hypochondroplasia and multiple exostoses are discussed.

  4. Hereditary multiple exostoses of the ribs: an unusual cause of hemothorax and pericardial effusion. (United States)

    Cowles, Robert A; Rowe, Dorothy H; Arkovitz, Marc S


    A 6-year-old girl with hereditary multiple exostoses presented with spontaneous hemothorax and pericardial effusion. Chest computed tomographic scan showed left-sided costal exostoses protruding into the left side of the chest. She underwent successful thoracoscopic resection of 3 left rib exostoses and made a full recovery. This report illustrates this rare clinical scenario and reviews the previously published reports of this complication of costal exostoses.

  5. Hereditary multiple exostoses of the hip. (United States)

    El-Fiky, Tarek A M; Chow, Wang; Li, Yun Hoi; To, Michael


    To assess the radiographic features of 36 hips with hereditary multiple exostoses (HME). Hip parameters of 12 males and 6 females (36 hips) aged 2 to 28 years with HME were assessed using anteroposterior radiographs. The recorded features included the sites of osteochondromas, the femoral head/neck ratio, the Reimer's migration percentage, Sharp's acetabular angle, the centre edge angle, the femoral neck-shaft angle, and degenerative changes. 15 of the 18 patients were asymptomatic; 3 complained of pain (2 underwent excision or bone biopsy); no lesion was malignant. Osteochondromas were most commonly located in the femur followed by the ilium; only one was intra-articular. 32 hips had coxa valga; 26 had an abnormal Reimer's migration percentage; 17 had an abnormal Sharp's acetabular angle; 12 had an abnormal centre edge angle; 32 had an abnormal femoral neck-shaft angle; and 6 had degenerative changes. Acetabular and femoral dysplasia as well as subluxation are common in patients with HME. Borderline subluxated hips and those with marked coxa valga and/or acetabular dysplasia should be closely monitored to determine the need for surgery in the future. Subluxated hips should be operated on early, particularly in children and symptomatic adults.

  6. The hip in hereditary multiple exostoses. (United States)

    Porter, D E; Benson, M K; Hosney, G A


    We defined the characteristics of dysplasia and coxa valga in hereditary multiple exostoses (HME) by radiological analysis of 24 hips in 12 patients. The degree and effect of the 'osteochondroma load' around the hip were quantified. We investigated the pathology of the labrum and the incidence of osteoarthritis and of malignant change in these patients. Coxa valga and dysplasia were common with a median neck-shaft angle of 156 degrees, a median centre-edge angle of 23 degrees and Sharp's acetabular angle of 44 degrees. There was overgrowth of the femoral neck with a significantly greater ratio of the neck/shaft diameter in HME than in the control hips (p coxa valga (p coxa valga. No correlation was found between dysplasia and coxa valga. These data suggest that HME may cause anomalies of the hip as a reflection of a generalised inherited defect, but also support the theory that osteochondromas may themselves precipitate some of the characteristic features of HME around the hip.

  7. Hereditary multiple exostoses: from genetics to clinical syndrome and complications

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    Vanhoenacker, Filip M.; Hul, Wim van; Wuyts, Wim; Willems, P.J.; Schepper, Arthur M. de


    Objective: To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME). Methods and material: After linkage analysis in both families to localize the defective gene, mutation analysis was performed in these genes to identify the underlying mutation. In the 31 affected individuals, location, number and morphology and evolution of exostosis, evolution of remodeling defects at the metaphysis, and the extent of possible complications were evaluated on clinical and imaging (plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI)) data over a lifetime period. Results and conclusions: Both families demonstrate the gene defect in the same EXT-2 gene locus on chromosome 11p. Exostoses are preferentially located in the lower extremity (hip, knee and lower leg), humerus, and forearm. Any other bone may be involved, except for the calvaria of the skull and the mandible. Exostoses are rather sessile than pedunculated. Exostosis is rarely present at birth but develops gradually and may persist to grow slowly after closure of the growth plates. Preferential expression of the remodeling defect was seen in the hip, distal femur (trumpet-shaped metaphysis) and forearm (shortening of the ulna with secondary bowing of the radius and development of a pseudo-Madelung deformity). These radiological manifestations start at the age of 4-5 years and become more obvious as the enchondral bone formation progresses with age. Reported complications in these families consist of local entrapment phenomenons (vessel, tendon, nerve), frictional bursitis, and sarcomatous transformation. MRI was able to suggest these complications and is the imaging technique of choice in the evaluation of symptomatic exostoses.

  8. [Buccal bony exostoses induced by free gingival grafts]. (United States)

    Tal, H; Slutzkey, S


    Buccal Bony Exostoses (BBE) is a local benign osseous overgrowth continuous with the facial aspect of the jaw. Post operative BBE may be the result of dermal grafts used to restore the buccal vestibulum, of connective tissue graft placement, and of Free Gingival Grafts (FGG) procedures. In 46 patients in whom 72 FGG procedures were performed by the senior author (HT) over the past 12 years, BBE was clinically and radiographically diagnosed. In one case the tumor was surgically removed. The etiology, pathogenesis and frequency of BBE following FGG procedures was reviewed and discussed. We suggest that the BBE may develop owing to periosteal surgical trauma during FGG procedures, and suggest that this phenomenon receives further attention.

  9. The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. (United States)

    D'Ambrosi, Riccardo; Ragone, Vincenza; Caldarini, Camilla; Serra, Nicola; Usuelli, Federico Giuseppe; Facchini, Renato Mario


    The aim of the study was to evaluate quality of life (QOL), global health status, pain, and level of satisfaction in patients with hereditary multiple exostoses (HME), and to correlate the association between the severity of diseases and age, sex, number of surgical procedures, and number of exostoses. The data of 50 patients with HME were retrospectively evaluated and recorded. QOL was evaluated with the Short-Form Health Survey (SF-12) questionnaire, the 12-Item General Health Questionnaire (GHQ-12), and Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q-SF); intensity of pain was measured using the visual analogue scale (VAS). The association of age, gender, pain, quality of life, number of exostoses, and number of surgical procedures were evaluated and correlated. Mean number of exostoses in our patient's cohort resulted 18.12 ± 8.60, and every patient underwent to a mean of 5.62 ± 5.74 surgical procedures for the exostoses. Mean VAS resulted 5.16 ± 2.90. Considering SF-12, mental (MCS) and physical (PCS) component resulted, respectively, 45.36 ± 10.76 and 38.73 ± 11.09, while GHQ-12 and Q-LES-Q-SF were 15.48 ± 4.70 and 45.28 ± 9.55, respectively. We found a significant positive correlation between the number of exostoses and the number of surgical procedures (p life as measured by the MCS and PCS scores similar to the disability associated with osteoarthritis in the mental component and tumors or diabetes as regards the physical component. Moreover, we found no difference in patients' quality of life as regards number of exostoses, age, and surgical procedure, but we found that women have a worse response as regards the psychological side than men.

  10. Total hip and knee arthroplasty in patients with hereditary multiple exostoses. (United States)

    Mesfin, Addisu; Goddard, Maria S; Tuakli-Wosornu, Yetsa A; Khanuja, Harpal S


    To the authors' knowledge, few reports have been published in the English literature of using total knee arthroplasty and total hip arthroplasty for the treatment of hereditary multiple exostoses. This article describes 2 patients with hereditary multiple exostoses, 1 treated with total hip arthroplasty and 1 treated with total knee arthroplasty. Bony deformities make arthroplasty uniquely challenging in patients undergoing total hip or knee arthroplasty. An expanded metaphysis of the proximal femur, coxa valga deformity, and the presence of hardware from previous reconstructive surgeries can make total hip arthroplasty technically difficult. Substantial bony deformity of the distal femur, valgus deformity of the knee, and sizing issues that necessitate custom implants can make total knee arthroplasty difficult. The most common bony deformities in hereditary multiple exostoses are short stature, limb-length discrepancy, valgus deformity at the knee and ankle, and asymmetry of the pectoral and pelvic girdles. Most reported surgical treatments for patients with hereditary multiple exostoses focus on the pediatric population or the management of malignant transformation of exostoses. Studies that specifically address the conditions associated with knee deformities focus on extra-articular deformity correction rather than arthroplasty.When arthroplasty is necessary in this patient population, an understanding of the commonly occurring deformities can help with preoperative planning and surgical management. All painful lesions must be evaluated for malignant transformation. Bone scans can be useful during workup. All specimens should be sent for pathologic evaluation. Such patients are challenging because of the distorted hip anatomy and valgus knee deformity. The current 2 cases illustrate specific challenges that can be anticipated and underscore key principles for arthroplasty in the management of hereditary multiple exostoses. Copyright 2012, SLACK Incorporated.

  11. Hereditary multiple exostoses in a 15-year-old boy: A case report ...

    African Journals Online (AJOL)


    Sep 6, 2016 ... cause major physical handicap and may be resected. Key words: Hereditary, Multiple,. Exostoses, Deformity. Introduction. Osteochondroma, the most common bone tumour seen in children, is a developmental lesion rather than a true neoplasm and constitutes 20%–50% of all benign bone tumours.1 It is a ...

  12. Hereditary multiple exostoses in a 15-year-old boy: A case report ...

    African Journals Online (AJOL)

    Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses of long bones and can lead to considerable psychosocial ...

  13. Surgical hip dislocation according to Ganz for excision of osteochondromas in patients with multiple hereditary exostoses

    NARCIS (Netherlands)

    Sorel, J. C.; Façee Schaeffer, M.; Homan, A. S.; Scholtes, V. A B; Kempen, D. H R; Ham, S. J.


    Aims We report a prospective cohort study of the midterm results of surgical dislocation of the hip (according to Ganz) to perform resection of osteochondromas involving the femoral neck in patients with multiple hereditary exostoses (MHE). Methods Hip range of movement (ROM) was assessed pre-and

  14. Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern. (United States)

    Beltrami, Giovanni; Ristori, Gabriele; Scoccianti, Guido; Tamburini, Angela; Capanna, Rodolfo


    Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying. Although MHE may be asymptomatic, a wide spectrum of clinical manifestations is found in paediatric patients with this disorder. Pain is experienced by the majority of patients, even restricted motion of the joint is often encountered. Sometimes exostoses can interfere with normal development of the growth plate, giving rise to limb deformities, low stature and scoliosis. Other many neurovascular and associated disorders can lead to surgery. The most feared complication is the malignant transformation of an existing osteochondroma into a secondary peripheral chondrosarcoma, during adulthood. The therapeutic approach to HME is substantially surgical, whereas the medical one is still at an experimental level. In conclusion, HME is a complex disease where the paediatrician, the geneticist and the orthopaedic surgeon play an interchangeable role in diagnosis, research and therapy. We are waiting for new studies able to explain better the role of HS in signal transduction, because it plays a role in other bone and cartilage diseases (in particular malignant degeneration) as well as in skeletal embryology.

  15. Prise en charge et surveillance d'une exostose solitaire du fémur ...

    African Journals Online (AJOL)

    L'exostose solitaire est une affection bénigne touchant l'enfant et les adultes. Son diagnostic est clinique, aidé par les examens radiologiques. Le traitement est chirurgical et consiste en son exérèse afin d'éviter les complications de compression vasculaire, ou de dégénérescence sarcomateuse. Nous rapportons ici le cas ...

  16. Developmental pattern of the hip in patients with hereditary multiple exostoses


    Wang, Ya-Zhou; Park, Kwang-Won; Oh, Chang-Seon; Ahn, Yeong-Seub; Kang, Qing-Lin; Jung, Sung-Taek; Song, Hae-Ryong


    Background Coxa valga is a common clinical feature of hereditary multiple exostoses (HME). The current study aimed to determine the unique developmental pattern of the hip in patients with HME and evaluate the factors that influence its progression. Methods Thirty patients (57 hips) with HME were divided into two groups according to the Hilgenreiner epiphyseal angle (HEA). Twenty-two patients (44 hips) including 13 men and 9 women were assigned to group 1 (HEA

  17. Behavior-induced auditory exostoses in imperial Roman society: evidence from coeval urban and rural communities near Rome. (United States)

    Manzi, G; Sperduti, A; Passarello, P


    Presence and features of auditory exostoses were investigated in two cranial samples of Roman imperial age (1st-3rd century A.D.). The skeletal material comes from the necropolises of Portus (Isola Sacra) and Lucus Feroniae (Via Capenate), two towns along the Tevere River, in close relation with the social and economic life of Rome. Deep-rooted differences between the human communities represented by the skeletal samples (83 and 71 individuals, respectively, in this study) are documented both historically and archaeologically. The results show lack of exostoses in the female sex, a negligible incidence among the males of Lucus Feroniae, but a high frequency in the male sample from Isola Sacra (31.3%). Auditory exostoses are commonly recognised as localized hyperplastic growths of predominantly acquired origin. Features of the exostoses found in the male crania from Isola Sacra (particularly in relation to the age at death of the affected individuals) support this view. Furthermore, several clinical and anthropological studies have pointed out close links between the occurrence of auditory exostoses and prolonged cold water exposure, generally due to the practice of aquatic sports, or to working activities involving water contact or diving. In this perspective, the differences observed between the two Roman populations and between the sexes (in Isola Sacra) appear to result from different social habits: the middle class population of Portus habitually used thermal baths, whereas it is probable that thermae were seldom frequented (if at all) by the Lucus Feroniae population represented in the necropolis (mostly composed by slaves or freedmen farm laborers).(ABSTRACT TRUNCATED AT 250 WORDS)

  18. Contribution of bioanthropology to the reconstruction of prehistoric productive processes. The external auditory exostoses in the prehispanic population of Gran Canaria


    Velasco Vázquez, Javier; Martín Rodríguez, Ernesto; González Reimers, Emilio; Arnay de la Rosa, Matilde; Betancor Rodríguez, Antonio


    The aim of this paper is an approach to the role of bioanthropological studies in the reconstruction of the productive processes of past societies. This objective is obtained starting from the survey and valuation of the prevalence of bone exostoses in the auditory canal among the prehistoric inhabitants of Gran Canaria. The auditory exostose is a bone wound well documented through clinical and experimental studies, closely related to the exposure of the auditory canal to cold water. The esti...

  19. External auditory exostoses and hearing loss in the Shanidar 1 Neandertal. (United States)

    Trinkaus, Erik; Villotte, Sébastien


    The Late Pleistocene Shanidar 1 older adult male Neandertal is known for the crushing fracture of his left orbit with a probable reduction in vision, the loss of his right forearm and hand, and evidence of an abnormal gait, as well as probable diffuse idiopathic skeletal hyperostosis. He also exhibits advanced external auditory exostoses in his left auditory meatus and larger ones with complete bridging across the porus in the right meatus (both Grade 3). These growths indicate at least unilateral conductive hearing (CHL) loss, a serious sensory deprivation for a Pleistocene hunter-gatherer. This condition joins the meatal atresia of the Middle Pleistocene Atapuerca-SH Cr.4 in providing evidence of survival with conductive hearing loss (and hence serious sensory deprivation) among these Pleistocene humans. The presence of CHL in these fossils thereby reinforces the paleobiological and archeological evidence for supporting social matrices among these Pleistocene foraging peoples.

  20. External auditory exostoses and hearing loss in the Shanidar 1 Neandertal.

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    Erik Trinkaus

    Full Text Available The Late Pleistocene Shanidar 1 older adult male Neandertal is known for the crushing fracture of his left orbit with a probable reduction in vision, the loss of his right forearm and hand, and evidence of an abnormal gait, as well as probable diffuse idiopathic skeletal hyperostosis. He also exhibits advanced external auditory exostoses in his left auditory meatus and larger ones with complete bridging across the porus in the right meatus (both Grade 3. These growths indicate at least unilateral conductive hearing (CHL loss, a serious sensory deprivation for a Pleistocene hunter-gatherer. This condition joins the meatal atresia of the Middle Pleistocene Atapuerca-SH Cr.4 in providing evidence of survival with conductive hearing loss (and hence serious sensory deprivation among these Pleistocene humans. The presence of CHL in these fossils thereby reinforces the paleobiological and archeological evidence for supporting social matrices among these Pleistocene foraging peoples.

  1. Developmental pattern of the hip in patients with hereditary multiple exostoses. (United States)

    Wang, Ya-Zhou; Park, Kwang-Won; Oh, Chang-Seon; Ahn, Yeong-Seub; Kang, Qing-Lin; Jung, Sung-Taek; Song, Hae-Ryong


    Coxa valga is a common clinical feature of hereditary multiple exostoses (HME). The current study aimed to determine the unique developmental pattern of the hip in patients with HME and evaluate the factors that influence its progression. Thirty patients (57 hips) with HME were divided into two groups according to the Hilgenreiner epiphyseal angle (HEA). Twenty-two patients (44 hips) including 13 men and 9 women were assigned to group 1 (HEA coxa valga and 27 (47.4%) hips had abnormal MP (42.1% were borderline and 5.3% were subluxated). There was a significant difference in the HEA and NSA between the groups (p coxa valga deformity with close follow-up.

  2. [Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses]. (United States)

    Cammarata-Scalisi, Francisco; Cozar, Mónica; Grinberg, Daniel; Balcells, Susana; Asteggiano, Carla G; Martínez-Domenech, Gustavo; Bracho, Ana; Sánchez, Yanira; Stock, Frances; Delgado-Luengo, Wilmer; Zara-Chirinos, Carmen; Chacín, José Antonio


    Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the disease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18,000 to 1/50,000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses.

  3. Audiological implications of earplugs used for the prevention of aural exostoses. (United States)

    Srinivasan, Jyoti; Reddy, Venkat M; Flanagan, Phillip M


    External auditory canal exostoses may be a preventable disease, so it is surprising that the regular use of water precautions is not greater among surfers. One reason for this is the impairment of hearing whilst wearing earplugs. The objective of this study is to establish the hearing impairment of commonly available earplugs used by surfers. Staff and patients with normal hearing were recruited to have pure tone audiometry performed multiple times, initially with no earplugs, and subsequently with earplugs. Three earplug types were tested which differed in their nature and material (prefabricated elastomer, custom-fitted silicone, and custom-fitted acrylic). Vented and non-vented forms of the earplugs were tested. 30 normal hearing ears were included. Two-tailed paired t-tests comparing hearing thresholds between different earplugs identified that the elastomer earplugs caused the least hearing impairment (p earplugs (p = 0.148), but the difference between vented and non-vented forms of other earplugs was statistically significant (silicone p = 0.010, acrylic p = 0.018). Prefabricated ear plugs produce less hearing impairment than other commonly available earplugs. A customised earplug made of hard material causes the greatest impairment of hearing. We therefore recommend that for aquatic sports where hearing is important, a soft prefabricated earplug is preferable.

  4. Exostose múltipla hereditária com compressão medular Hereditary multiple exostosis with cervical cord compression: a case report

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    José Jorge Facure


    Full Text Available Os autores registram um caso raro de exostose múltipla hereditária em que ocorreu compressão medular pelo crescimento de massa cartilaginosa na luz do canal raqueano. A descompessão cirúrgica por laminectomia resultou em pronta regressão do quadro neurológico.A case of hereditary multiple exostoses successfully operated is reported. The patient, a 15 year-old white brazilian boy, was admitted with tetraplegia and Babinski's sign. Early diagnosis followed by prompt surgery may prevent permanent spinal cord damage.

  5. A mountain among molehills: removing an impinging large femoral neck osteochondroma in a man with hereditary multiple exostoses.

    LENUS (Irish Health Repository)

    Fitzgerald, Conall W R


    A 31-year-old man with a history of hereditary multiple exostoses (HME) presented with persistent right groin pain and reduced hip range of movement. Examination demonstrated a positive FADIR (flexion, adduction and internal rotation) test suggesting femoroacetabular impingement (FAI). Investigations showed multiple sessile osteochondromata of the right femur with a dominant anterolateral femoral neck osteochondroma causing flexion block. The patient underwent an uncomplicated proximal femoral exostectomy. Six-week postoperative pain, range of movement and daily activity had greatly improved. This case highlights that even in the setting of multiple osteochondromata, excellent impingement relief can be achieved following selective proximal femoral exostectomy.

  6. Multiple Rib Exostoses in a Boy: A Rare CaseResulting in Surgery Secondary to Cosmetic Concerns

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    Seyed Hosein Fattahi Masoum


    Full Text Available A seven year-old boy with several painless masses on the ribs and shoulder was referred to our hospital. The masses were so prominent that they prevented the child’s sleep. Since the patient had been ridiculed by his friends due to the rib prominences, he had refused to attend school. After clinical and radiological evaluations, the masses were diagnosed as hereditary multiple exostoses of the shoulder and ribs. He underwent surgery for cosmetic reasons resulting in the patient’s return to a normal life.

  7. Multiple hereditary exostoses and ischiofemoral impingement: a case-control study

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    Yoong, Philip; Mansour, Ramy; Teh, James L. [Nuffield Orthopaedic Centre, Department of Radiology, Oxford (United Kingdom)


    To assess whether there is a significant difference in the ischiofemoral space in patients with multiple hereditary exostoses affecting the proximal femora compared to normal patients. Ischiofemoral impingement is an increasingly recognized cause of hip and buttock pain. This causes narrowing of the ischiofemoral space resulting in an abnormal quadratus femoris muscle. We performed a retrospective search for individuals with MHE with proximal femoral involvement on pelvic MRI over a 7-year period (2006-2013). Suitable patients were age- and sex-matched with a control group. The minimum ischiofemoral space (MIFS) was recorded in each hip, as was the presence of edema and atrophy of quadratus femoris and concomitant hip osteoarthrosis. MRI features suggestive of ischiofemoral impingement were defined as MIFS less than 10 mm or an abnormal quadratus femoris muscle. Twenty-one hips in 11 individuals with MHE were included in the study. A total of 42 hips were analyzed. The mean age was 37 years (range, 13-72 years) and 55 % were male. There was a significant difference (p < 0.05) in the MIHS in individuals with MHE (mean, 10.7 mm, range, 0-21 mm) compared to a control group (mean, 18.1 mm, range, 10.5-26.5 mm). MRI features suggestive of ischiofemoral impingement were seen in 13/21 (62 %) hips in the MHE group and 0/21 (0 %) in the control group. The reduced ischiofemoral space and associated quadratus femoris abnormalities in patients with MHE involving the proximal femora may account for hip/buttock symptoms in the absence of significant degenerative change. (orig.)

  8. Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. (United States)

    Li, Hung; Yamagata, Takanori; Mori, Masato; Momoi, Mariko Y


    Two boys from separate families presented with hereditary multiple exostoses (EXT) and autism associated with mental retardation. Their fathers both expressed a clinical phenotype of hereditary multiple exostoses milder than those of the patients and without the associated mental disorder. The EXT1 and EXT2 genes from lymphocytes of the affected individuals were analyzed by using denaturing high-performance liquid chromatography and direct sequencing. A novel deletion mutation, 1742delTGT-G in exon 9 of EXT1, causing a frameshift was detected in one boy and his father. Another novel deletion mutation, 2093delTT in exon 11 of EXT1, causing transcription termination was detected in the other affected boy and his father. EXT1 is expressed in the brain, and both EXT1 and EXT2 proteins are associated with glycosyltransferase activities required for the biosynthesis of heparan sulfate, which also has activity in the brain. The coincidental association of mental disorders in the boys was not completely excluded. However, these results suggest the involvement of EXT1 in the development of mental disorders, including mental retardation and autism.

  9. Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11 (United States)

    Wuyts, Wim; Ramlakhan, Sarvan; Van Hul, Wim; Hecht, Jacqueline T.; van den Ouweland, Ans M. W.; Raskind, Wendy H.; Hofstede, Floris C.; Reyniers, Edwin; Wells, Dan E.; de Vries, Bert; Conrad, Ernest U.; Hill, April; Zalatayev, Dmitry; Weissenbach, Jean; Wagner, Michael J.; Bakker, Egbert; Halley, Dicky J. J.; Willems, Patrick J.


    Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene. PMID:7668264

  10. A 5-year-old boy with a large hereditary multiple exostoses lump grown into thoracic cavity. (United States)

    Huang, Lijun; Lu, Qiang; Yan, Xiaolong; Han, Yong


    Multiple exostosis is associated with the autosomal dominant disorder and hereditary multiple exostoses (HMEs), are rarely growing around the ribs and the formation of a large lump into the thoracic cavity. It's generally agreed that when there are no symptoms present, a HME patient could either avoid any treatment or postpone the operation until adolescence. We present a 5-year-old boy with 4 cm × 3.5 cm HMEs lump invasion into the thoracic cavity, with symptoms of chest distress and right chest pain. This patient received video-assisted thoracoscopic surgery (VATS) and a the lump and 1 cm rib involved was resected. During a 2 years follow-up, the patient remained in good condition without recurrence and complications.

  11. Contribution of bioanthropology to the reconstruction of prehistoric productive processes. The external auditory exostoses in the prehispanic population of Gran Canaria

    Directory of Open Access Journals (Sweden)

    Velasco Vázquez, Javier


    Full Text Available The aim of this paper is an approach to the role of bioanthropological studies in the reconstruction of the productive processes of past societies. This objective is obtained starting from the survey and valuation of the prevalence of bone exostoses in the auditory canal among the prehistoric inhabitants of Gran Canaria. The auditory exostose is a bone wound well documented through clinical and experimental studies, closely related to the exposure of the auditory canal to cold water. The estimation of this bone anomaly among the analysed population, leads to the definition of outstanding territorial variations in the economic strategies of these human groups.

    En el presente trabajo se pretende abordar el papel de los estudios bioantropológicos en la reconstrucción de los procesos productivos de las sociedades del pasado. Esta finalidad es perseguida a partir del examen y valoración de la prevalencia de exostosis óseas en el canal auditivo en la población prehistórica de Gran Canaria. Las exostosis auditivas constituyen una lesión ósea, bien documentada en trabajos experimentales y clínicos, estrechamente relacionada con la exposición del canal auditivo al agua fría. La estimación de esta anormalidad ósea en el conjunto poblacional analizado permite la definición de importantes variaciones territoriales en las estrategias económicas emprendidas por estos grupos humanos.

  12. CASE REPORT CAS Dysplastic bone disease mimicking exostoses ...

    African Journals Online (AJOL)

    Department of Otolaryngology – Head and Neck Surgery, Leeds General. Infirmary, Leeds, UK. Fig. 1. Axial CT scan showing generalised thickening of the cranial vault. Fig. 2. Temporal bone CT scan showing narrowing in both internal auditory canals and constriction of the contents of both otic capsules. SA JOURNAL OF ...

  13. Exostoses of the Bony Pyramid of the Nose : A Review About an Adaptive Response to Mechanical Stimuli Exerted by In-Flight Oxygen Masks

    NARCIS (Netherlands)

    Schreinemakers, J. Rieneke C; Klein-Nulend, J.; van Lotten, M. L.; Nolte, P. A.; Kon, M.


    This review addresses thickening of the bony pyramid of the nose, a condition that is caused by in-flight oxygen masks in otherwise healthy Royal Netherlands Air Force (RNLAF) F-16 pilots. The overlying skin may show temporary or permanent reddening, irritation, thickening and may become painful.

  14. Gclust Server: 112804 [Gclust Server

    Lifescience Database Archive (English)

    Full Text Available Cluster Sequences - 676 NP_004446.1 exostoses (multiple)-like 1 ; no annotation 1 1.00e+00 0.0 0.0 0.0...Representative annotation NP_004446.1 exostoses (multiple)-like 1 ; no annotation Number of Sequences 1

  15. Intraosseous Atypical Chondroid Tumor or Chondrosarcoma Grade 1 in Patients with Multiple Osteochondromas

    NARCIS (Netherlands)

    Goud, Annemarie L.; Wuyts, Wim; Bessems, Johannes; Bramer, Jos; van der Woude, Henk Jan; Ham, John


    Background: The autosomal dominant condition multiple osteochondromas, formerly called multiple hereditary exostoses, is associated with a risk of malignant progression of osteochondroma into secondary peripheral chondrosarcoma. Most patients with multiple osteochondromas have exostosin-1 or

  16. [Osteoma and exostosis of the external auditory meatus: a clinical diagnosis]. (United States)

    Granell, J; Puig, A; Benito, E


    Proliferative osseous lesions usually found in the external ear are exostoses and osteomata. In other sites they are clearly different entities, but in this location histopathologic differential features are not so reliable in the study of the specimens. An occlusive osteomata is shown, with the typical clinical presentation demonstrated in a multiplanar CT. Microscopically, the lesion consisted of mature bone trabeculae, separated by medular spaces with fibrovascular tissue, characteristic features of osteomata. However, in the most superficial areas, lines of bone apposition, like those in exostoses, were found. A literature review confirms the lack of specificity of the histopathologic study, so diagnosis is based on clinical data.

  17. Fluoride Excess in Coccidioidomycosis Patients Receiving Long-Term Antifungal Therapy: an Assessment of Currently Available Triazoles (United States)

    Bays, Derek; Cohen, Stuart H.; Pappagianis, Demosthenes


    The use of voriconazole, a trifluorinated antifungal, has been associated with the development of fluoride excess and periostitis/exostoses. We evaluated a cohort of patients on long-term triazole therapy and found that other fluorinated triazoles (fluconazole and posaconazole) conferred no risk for the development of hyperfluorosis and its complications in our cohort. PMID:22005993

  18. Afrimedic Vol. 4, No. 2

    African Journals Online (AJOL)


    shoulder blades are commonly affected. Face and skull ... occasional damage to nerves, arteries and muscles, hence, the presence of pain. ... colour of overlying or surrounding skin. No differential warmth or lymphadenopathy. No loss of distal neurovascular function. A diagnosis of hereditary multiple exostoses was made.

  19. Case series

    African Journals Online (AJOL)


    16 mars 2016 ... Introduction. L'ostéochondrome (OC) encore appelé exostose ostéochondrale ou ostéochondrome correspond à un hamartome qui se développe pendant la croissance par une ossification enchondrale et est recouvert d'une coiffe cartilagineuse [1]. Il peut être solitaire dans la plupart des cas ou, rarement, ...

  20. Ulno-volar bayonet hand: Its differential diagnosis from Madelung's deformity

    Energy Technology Data Exchange (ETDEWEB)

    Christ, F.


    The ulno-volar bayonet hand related to the mostly hereditary multiple exostoses is compared to Madelung's forearm deformity under clinical and roentgenological view in differential diagnosis. The ulno-volar bayonet hand is considerably more seldom, basing upon dysplasia of the lower part of the ulna, less inconvenient in function, and hardly tending to the development of early arthrosis.

  1. Case report

    African Journals Online (AJOL)


    4 févr. 2015 ... Abstract. La luxation de la tête radiale dans le cadre de la maladie exostosante constitue une complication de déséquilibre de croissance des deux os de l'avant bras secondaire à une exostose distale de l'ulna. Le traitement est difficile et controversé par les auteurs. Nous présentons une technique.

  2. Evaluation of Currently Used Dental Management Indicators and Development of New Management and Performance Indicators. (United States)


    with Extractions 07320 Alveoloplasty 07412 Excision, Soft Tissue 07452 Removal of Odontogenic Cyst or Tumor 07462 Removal of Non- Odontogenic Cyst or...Osseous Resective Surgery 1942 150.00 291,300.00 30. 07462 Removal of Non- Odontogenic Cyst/ Tumor 667 400.00 266,800.00 11. 05120 Mandibular Full... Tumor 07470 Removal of Exostoses 07481 Sequestrectomy 07520 Biospy 07610 Maxilla, Open Reduction 07620 Maxilla, Closed Reduction 07630 Mandible, Open

  3. Genetic screening of EXT1 and EXT2 in Cypriot families with ...

    Indian Academy of Sciences (India)

    Pagon, M. P. Adam, H. H. Ardinger, T. D. Bird, C. R. Dolan, C. T.. Fong, R. J. H. Smith and K. Stephens). University of Washington,. Seattle. Xu L., Xia J., Jiang H., Zhou J., Li H., Wang D. et al. 1999 Mutation analysis of hereditary multiple exostoses in the Chinese. Hum. Genet. 105, 45–50. Received 8 October 2014, in final ...

  4. The Contribution of Genotype to Heterotopic Ossification after Orthopaedic Trauma (United States)


    initial  considerations in the high incidence of HO in the combat amputee population was the potential  prevalence  of occult head injury incurred by the...Haque S, Ahmad M, et al. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial

  5. Author Details

    African Journals Online (AJOL)

    ... l'Hopital Bethesda d'Agou-Nyogbo Abstract · Vol 18, No 4 (2016): Series B, D, E - Articles Fracture-avulsion de l'epine iliaque anterosuperieure: a propos d'un cas au CHU Sylvanus Olympio Abstract · Vol 19, No 1 (2017) - Articles Prise en charge et surveillance d'une exostose solitaire du fémur chez une fillette de 11 ans



    Banks, Russell J.


    Background: Metachondromatosis is a condition that causes gross conical metaphyseal expansion (sometimes irregular), cortical thinning, exostoses. Metachondromatous lesions occur mainly in the extremities and are roughly symmetrical. The lesions can involve the bones of the hand and all long bones in the arms and legs. The distribution in this case additionally involved the acromion process and ischia. The bone changes, although dramatic, can be confused with other types of metaphyseal dyspla...

  7. Fluoride excess and periostitis in transplant patients receiving long-term voriconazole therapy. (United States)

    Wermers, Robert A; Cooper, Kay; Razonable, Raymund R; Deziel, Paul J; Whitford, Gary M; Kremers, Walter K; Moyer, Thomas P


    We describe a heart transplant patient with painful periostitis and exostoses who was receiving long-term therapy with voriconazole, which is a fluoride-containing medication. Elevated plasma and bone fluoride levels were identified. Discontinuation of voriconazole therapy led to improvement in pain and reduced fluoride and alkaline phosphatase levels. To determine whether voriconazole is a cause of fluoride excess, we measured plasma fluoride levels in 10 adult post-transplant patients who had received voriconazole for at least 6 months and 10 post-transplant patients who did not receive voriconazole. To assess the effect of renal insufficiency on fluoride levels in subjects receiving voriconazole, half were recruited on the basis of a serum creatinine level of ≥1.4 mg/dL on their most recent measurement, whereas the other 5 subjects receiving voriconazole had serum creatinine levels periostitis, including exostoses in 2 patients. Discontinuation of voriconazole therapy in patients with periostitis resulted in improvement of pain and a reduction in alkaline phosphatase and fluoride levels. Voriconazole is associated with painful periostitis, exostoses, and fluoride excess in post-transplant patients with long-term voriconazole use.

  8. Ear Problems in Swimmers

    Directory of Open Access Journals (Sweden)

    Mao-Che Wang


    Full Text Available Acute diffuse otitis externa (swimmer's ear, otomycosis, exostoses, traumatic eardrum perforation, middle ear infection, and barotraumas of the inner ear are common problems in swimmers and people engaged in aqua activities. The most common ear problem in swimmers is acute diffuse otitis externa, with Pseudomonas aeruginosa being the most common pathogen. The symptoms are itching, otalgia, otorrhea, and conductive hearing loss. The treatment includes frequent cleansing of the ear canal, pain control, oral or topical medications, acidification of the ear canal, and control of predisposing factors. Swimming in polluted waters and ear-canal cleaning with cotton-tip applicators should be avoided. Exostoses are usually seen in people who swim in cold water and present with symptoms of accumulated debris, otorrhea and conductive hearing loss. The treatment for exostoses is transmeatal surgical removal of the tumors. Traumatic eardrum perforations may occur during water skiing or scuba diving and present with symptoms of hearing loss, otalgia, otorrhea, tinnitus and vertigo. Tympanoplasty might be needed if the perforations do not heal spontaneously. Patients with chronic otitis media with active drainage should avoid swimming, while patients who have undergone mastoidectomy and who have no cavity problems may swim. For children with ventilation tubes, surface swimming is safe in a clean, chlorinated swimming pool. Sudden sensorineural hearing loss and some degree of vertigo may occur after diving because of rupture of the round or oval window membrane.

  9. Bony outgrowths on the jaws of an extinct sperm whale support macroraptorial feeding in several stem physeteroids (United States)

    Lambert, Olivier; Bianucci, Giovanni; Beatty, Brian L.


    Several extinct sperm whales (stem Physeteroidea) were recently proposed to differ markedly in their feeding ecology from the suction-feeding modern sperm whales Kogia and Physeter. Based on cranial, mandibular, and dental morphology, these Miocene forms were tentatively identified as macroraptorial feeders, able to consume proportionally large prey using their massive teeth and robust jaws. However, until now, no corroborating evidence for the use of teeth during predation was available. We report on a new specimen of the stem physeteroid Acrophyseter, from the late middle to early late Miocene of Peru, displaying unusual bony outgrowths along some of the upper alveoli. Considering their position and outer shape, these are identified as buccal maxillary exostoses. More developed along posterior teeth and in tight contact with the high portion of the dental root outside the bony alveoli, the exostoses are hypothesized to have developed during powerful bites; they may have worked as buttresses, strengthening the teeth when facing intense occlusal forces. These buccal exostoses further support a raptorial feeding technique for Acrophyseter and, indirectly, for other extinct sperm whales with a similar oral apparatus ( Brygmophyseter, Livyatan, Zygophyseter). With a wide size range, these Miocene stem physeteroids were major marine macropredators, occupying ecological niches nowadays mostly taken by killer whales.

  10. SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates.

    Directory of Open Access Journals (Sweden)

    Margot E Bowen

    Full Text Available Loss of PTPN11/SHP2 in mice or in human metachondromatosis (MC patients causes benign cartilage tumors on the bone surface (exostoses and within bones (enchondromas. To elucidate the mechanisms underlying cartilage tumor formation, we investigated the role of SHP2 in the specification, maturation and organization of chondrocytes. Firstly, we studied chondrocyte maturation by performing RNA-seq on primary chondrocyte pellet cultures. We found that SHP2 depletion, or inhibition of the ERK1/2 pathway, delays the terminal differentiation of chondrocytes from the early-hypertrophic to the late-hypertrophic stage. Secondly, we studied chondrocyte maturation and organization in mice with a mosaic postnatal inactivation of Ptpn11 in chondrocytes. We found that the vertebral growth plates of these mice have expanded domains of early-hypertrophic chondrocytes that have not yet terminally differentiated, and their enchondroma-like lesions arise from chondrocytes displaced from the growth plate due to a disruption in the organization of maturation and ossification zones. Furthermore, we observed that lesions from human MC patients also display disorganized chondrocyte maturation zones. Next, we found that inactivation of Ptpn11 in Fsp1-Cre-expressing fibroblasts induces exostosis-like outgrowths, suggesting that loss of SHP2 in cells on the bone surface and at bone-ligament attachment sites induces ectopic chondrogenesis. Finally, we performed lineage tracing to show that exostoses and enchondromas in mice likely contain mixtures of wild-type and SHP2-deficient chondrocytes. Together, these data indicate that in patients with MC, who are heterozygous for inherited PTPN11 loss-of-function mutations, second-hit mutations in PTPN11 can induce enchondromas by disrupting the organization and delaying the terminal differentiation of growth plate chondrocytes, and can induce exostoses by causing ectopic chondrogenesis of cells on the bone surface. Furthermore, the

  11. Multiple osteochondromas of the antlers and cranium in a free-ranging white-tailed deer (Odocoileus virginianus.

    Directory of Open Access Journals (Sweden)

    Uwe Kierdorf

    Full Text Available This paper reports a case of multiple osteochondromas affecting the antlers and the left zygomatic bone of a free-ranging adult white-tailed buck (Odocoileus virginianus from Georgia, USA. Along with a few postcranial bones, the antlered cranium of the individual was found in a severely weathered condition and devoid of any soft tissue. The antlers exhibited five pedunculated exostoses that were composed of cancellous bone and, in their peripheral portions, also mineralized cartilage. The largest of the exostoses, located on the right antler, had a maximum circumference of 55 cm. The exostosis arising from the zygomatic bone was broad-based and much smaller than the exophytic outgrowths on the antlers. Diagnosis of the exostoses as osteochondromas was based on their overall morphology, the normal bone structure in their stalk regions, and the continuity of their spongiosa and cortex with the respective components of the parent bones. Antleromas, i.e., pathological outgrowths developing on antlers as a result of insufficient androgen production, were excluded in the differential diagnosis, based on (1 the apparent maturity and, except for the tumors, normal shape of the antlers and (2 the fact that exostosis formation had also affected the zygomatic bone. Previously only a single case of solitary osteochondroma of an antler has been described in the scientific literature. The case presented here is the first report of multiple osteochondromas in a deer. As antlers are regularly collected as trophies, and huge numbers of them are critically inspected each year, the fact that thus far only two cases of antler osteochondromas have been reported suggests that these tumors are very rare.

  12. Lumbar Spinal Stenosis Due to Ligamentum Flavum Hypertrophy in a Patient with Multiple Exostosis

    Directory of Open Access Journals (Sweden)

    Sevgi Ižkbali Afsar


    Full Text Available Hereditary multiple exostosis is an autosomal dominant disease characterized by multiple exostoses (osteochondromas usually affecting the metaphysical regions of long bones, usually of the lower extremity, and seldom occurring in the axial skeleton. In the literature, hereditary multiple exostosis cases that developed spinal canal stenosis due to spinal osteochondromas have been reported. Lumbar spinal stenosis may occur in a hereditary multiple exostosis patient due to ligamentum flavum hypertrophy, which is a hyperosteotic process that differs from exostosis. We discuss one such case, along with pathogenetic mechanisms and clinical features.

  13. Utility of planar bone scintigraphy to distinguish benign osteochondromas from malignant chondrosarcomas

    DEFF Research Database (Denmark)

    Hendel, Helle W; Daugaard, Soeren; Kjaer, Andreas


    PURPOSE: The current study was designed to evaluate the role of planar bone scintigraphy in the diagnosis of sarcomatous change in osteochondromas (cartilaginous exostoses). MATERIALS AND METHODS: Histologically verified cases of chondrosarcoma and osteochondroma, in which Tc-99m bone scintigraphy...... was performed, were reviewed in a retrospective study. RESULTS: Twenty-two cases were evaluated. Of 11 cases with chondrosarcomas, 8 (73%) had clearly increased tracer uptake, whereas the remaining cases had normal or decreased tracer uptake. Of the 11 cases with osteochondromas, 8 (73%) had clearly increased...... in distinguishing benign osteochondromas from malignant chondrosarcomas....

  14. Buccal-sided mandibular angle exostosis - A rare case report

    Directory of Open Access Journals (Sweden)

    Salman Basha


    Full Text Available Buccal exostoses are benign, broad-based surface masses of the outer or facial aspect of the maxilla and less commonly, the mandible. They begin to develop in early adulthood and may very slowly enlarge over the years. They are painless and self-limiting, but occasionally may become several centimeters across and then contribute to periodontal disease of the adjacent teeth by forcing food during chewing in toward the teeth instead of away from them, as is normally the case. The following paper presents a very rare case of buccal-sided mandibular angle exoxtosis and its management with surgical exploration.

  15. Ostéochondrome de fémur révélé par une lésion itérative du muscle vaste latéral: à propos d'un cas (United States)

    Sonia, Jemni; Samia, Frioui; Sahbi, Elmtawa; Walid, Osman; Fayçal, Khachnaoui


    Nous rapportons le cas d'un jeune homme de 32 ans présentant un ostéochondrome de fémur droit révélé par une lésion itérative du vaste externe. Le patient consulte pour des épisodes récidivants de douleur de la cuisse droite avec impotence fonctionnelle, survenant lors d'une activité sportive et imposant son arrêt. L’échographie a montré une déchirure du vaste latéral, avec un hématome témoignant d'une lésion récente et présence de fragments osseux à proximité évoquant un arrachement osseux. Un bilan radiologique standard a montré une exostose pédiculaire à la partie supérieure de la diaphyse fémorale compliquée d'une fracture. La tomodensitométrie était en faveur d'une exostose fémorale antérieure dont les limites étaient régulières et bien corticalisées. La résection chirurgicale de la tumeur et l'examen anatomo-pathologique ont permis de confirmer le diagnostic d'un ostéochondrome. PMID:26309461

  16. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. (United States)

    Swarr, Daniel T; Bloom, Douglas; Lewis, Richard Alan; Elenberg, Ewa; Friedman, Ellen M; Glotzbach, Caron; Wissman, Scott D; Shaffer, Lisa G; Potocki, Lorraine


    Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina. In this study, six patients with the Potocki-Shaffer syndrome were identified and evaluated using a multidisciplinary protocol that included assessments by a geneticist, ophthalmologist, otolaryngologist, orthopedist, nephrologist, audiologist, and neuropsychologist. Diagnostic studies included skeletal survey, magnetic resonance imaging of the brain, renal ultrasound, complete blood count, comprehensive metabolic panel, thyroid studies, and urinalysis. Using array comparative genomic hybridization, we further characterized the deletion in five of these patients. The results of these evaluations were combined with a comprehensive review of reported cases. Our data highlight the characteristic facial features, biparietal foramina, moderate-to-severe developmental delay and intellectual disability, myopia and strabismus, and multiple exostoses seen with this disorder. We also identify for the first time an association of Potocki-Shaffer syndrome with sensorineural hearing loss and autistic behaviors. Finally, we provide recommendations for the health maintenance of patients with Potocki-Shaffer syndrome. (c) 2010 Wiley-Liss, Inc.

  17. Loss of β-catenin induces multifocal periosteal chondroma-like masses in mice. (United States)

    Cantley, Leslie; Saunders, Cheri; Guttenberg, Marta; Candela, Maria Elena; Ohta, Yoichi; Yasuhara, Rika; Kondo, Naoki; Sgariglia, Federica; Asai, Shuji; Zhang, Xianrong; Qin, Ling; Hecht, Jacqueline T; Chen, Di; Yamamoto, Masato; Toyosawa, Satoru; Dormans, John P; Esko, Jeffrey D; Yamaguchi, Yu; Iwamoto, Masahiro; Pacifici, Maurizio; Enomoto-Iwamoto, Motomi


    Osteochondromas and enchondromas are the most common tumors affecting the skeleton. Osteochondromas can occur as multiple lesions, such as those in patients with hereditary multiple exostoses. Unexpectedly, while studying the role of β-catenin in cartilage development, we found that its conditional deletion induces ectopic chondroma-like cartilage formation in mice. Postnatal ablation of β-catenin in cartilage induced lateral outgrowth of the growth plate within 2 weeks after ablation. The chondroma-like masses were present in the flanking periosteum by 5 weeks and persisted for more than 6 months after β-catenin ablation. These long-lasting ectopic masses rarely contained apoptotic cells. In good correlation, transplants of β-catenin-deficient chondrocytes into athymic mice persisted for a longer period of time and resisted replacement by bone compared to control wild-type chondrocytes. In contrast, a β-catenin signaling stimulator increased cell death in control chondrocytes. Immunohistochemical analysis revealed that the amount of detectable β-catenin in cartilage cells of osteochondromas obtained from hereditary multiple exostoses patients was much lower than that in hypertrophic chondrocytes in normal human growth plates. The findings in our study indicate that loss of β-catenin expression in chondrocytes induces periosteal chondroma-like masses and may be linked to, and cause, the persistence of cartilage caps in osteochondromas. Copyright © 2013 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  18. Pathological fractures; a consideration with metachondromatosis and differential diagnoses. Osteochondromatosis and Gauchers disease. (United States)

    Banks, Russell J


    Metachondromatosis is a condition that causes gross conical metaphyseal expansion (sometimes irregular), cortical thinning, exostoses. Metachondromatous lesions occur mainly in the extremities and are roughly symmetrical. The lesions can involve the bones of the hand and all long bones in the arms and legs. The distribution in this case additionally involved the acromion process and ischia. The bone changes, although dramatic, can be confused with other types of metaphyseal dysplasia such as Gaucher disease and multiple exostoses. This paper will review the literature with regard to Metachondromatosis, Gaucher disease and Osteochondromatosis due to their similarities. The case study serves as an example of these findings and documents a history of fractures secondary to the obvious bone changes. Clinical manifestations of these conditions and how they may present to the manual therapist are discussed. With respect to Metachondromatosis, the manual therapist needs to be mindful of pathological fractures that can occur with little trauma. Manual therapists are cautioned against using long bones as levers for spinal manipulation in these patients.

  19. Paraphyseal changes on bone-age studies predict risk of delayed radiation-associated skeletal complications following total body irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Kitazono Hammell, Mary T.; Edgar, J.C.; Jaramillo, Diego [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Bunin, Nancy [The Children' s Hospital of Philadelphia, Oncology Division, BMT Section, Philadelphia, PA (United States)


    Children undergoing total body irradiation (TBI) often develop delayed skeletal complications. Bone-age studies in these children often reveal subtle paraphyseal changes including physeal widening, metaphyseal irregularity and paraphyseal exostoses. To investigate whether paraphyseal changes on a bone-age study following TBI indicate a predisposition toward developing other radiation-associated skeletal complications. We retrospectively reviewed medical records and bone-age studies of 77 children receiving TBI at our institution between 1995 and 2008 who had at least 2 years of clinical follow-up and one bone-age study after TBI. We graded bone-age studies according to the severity of paraphyseal changes. All documented skeletal complications following TBI were tabulated. Kendall's tau-b was used to examine associations between degree of paraphyseal change and development of a skeletal complication. Kendall's tau analyses showed that physeal widening and metaphyseal irregularity/sclerosis (tau = 0.87, P < 0.001) and paraphyseal exostoses (tau = 0.68, P < 0.001) seen on bone-age studies were significantly positively associated with the development of delayed skeletal complications following TBI. Thirty percent of children with no or mild paraphyseal changes developed a delayed skeletal complication, compared with 58% of children with moderate paraphyseal changes and 90% of children with severe paraphyseal changes. Paraphyseal changes identified on a bone-age study correlate positively with the development of delayed skeletal complications elsewhere in the skeleton following TBI. (orig.)

  20. Dedifferentiated Peripheral Chondrosarcoma: A Review of Radiologic Characteristics

    Directory of Open Access Journals (Sweden)

    Eric R. Henderson


    Full Text Available Introduction. Peripheral de-differentiated chondrosarcomas are among the rarest malignant mesenchymal tumors. This tumor’s descriptive radiographic characteristics are reported but objective quantification does not exist. This investigation surveyed imaging of peripheral de-differentiated chondrosarcomas to facilitate better recognition of these uncommon tumors. Methods. Database interrogation for peripheral de-differentiated chondrosarcomas was performed; 23 patients were identified and imaging for 18 was reviewed. A musculoskeletal radiologist reviewed all studies for mineralization characteristics; presence of pre-existing osteochondromas; preserved corticomedullary continuity; adjacent cortical obliteration; soft-tissue mass; tumor necrosis; and presence of a cartilage cap. Tumor luminance was measured with computer software. Results. Mineralization was present in 17 tumors. Pre-existing exostoses were evident in nine cases, corticomedullary continuity was preserved in three cases. There was no difference in mineralization or other characteristics based on tumor location. Mean tumor luminance was 94.9 candela/m2. Conclusions. The imaging characteristics described for central de-differentiated chondrosarcomas are similar to the peripheral form of this tumor. Peripheral mineralization with a bimorphic pattern on CT scan and the presence of a soft-tissue mass should be considered worrisome for a peripheral de-differentiated chondrosarcoma, particularly in the setting of multiple hereditary exostoses.

  1. β-D-xylosides stimulate GAG synthesis in chondrocyte cultures due to elevation of the extracellular GAG domains, accompanied by the depletion of the intra-pericellular GAG pools, with alterations in the GAG profiles. (United States)

    Weinstein, Talia; Evron, Zoharia; Trebicz-Geffen, Meirav; Aviv, Moran; Robinson, Dror; Kollander, Yehuda; Nevo, Zvi


    The familial disease of hereditary multiple exostoses is characterized by abnormal skeletal deformities requiring extensive surgical procedures. In hereditary multiple exostoses patients there is a shortage in the pericellular glycosaminoglycan (GAG) of heparan sulfate (HS), related to defective activity of HS glycosyltransferases, mainly in the pericellular regions of chondrocytes. This study searched for a novel approach employing xylosides with different aglycone groups priming a variety of GAG chains, in attempting to alter the GAG compositional profile. Cell cultures of patients with osteochondroma responded to p-nitrophenyl β-D-xyloside by a significant increase in total GAG synthesis, expressed mainly in the extracellular domains, limited to chondroitin sulfate). The different β-D-xylosides, in addition to increasing the synthesis of extracellular GAGs, led to a significant depletion of the intracellular GAG domains. In mouse chondrocyte cultures, β-D-xylosides with different aglycones created a unique distribution of the GAG pools. Of special interest was the finding that the naphthalene methanol β-D-xyloside showed the highest absolute levels of HS-GAGs in both extracellular and intra-pericellular moieties compared with other β-D-xylosides and with controls without xyloside. In summary, β-D-xylosides can be utilized in chondrocyte cultures to modify the distribution of GAGs between the extracellular and intracellular compartments. In addition, xylosides may alter the profile of specific GAG chains in each moiety.

  2. Surgical management of palatine Torus - case series

    Directory of Open Access Journals (Sweden)

    Thaís Sumie Nozu Imada

    Full Text Available INTRODUCTION: Torus palatinus is a specific name to identify exostoses developed in the hard palate along the median palatine suture. Despite of not being a pathological condition, its presence requires attention and knowledge regarding its management. Surgical removal of exostoses is indicated when the patient frequently traumatizes the area of palatine torus during mastication and speech or when it is necessary for the rehabilitation of the upper arcade with complete dentures. OBJECTIVE: The aim of this article is to present three cases of Torus palatinus and to discuss the management of them. CASE REPORT: In the first case, a 57-year-old Caucasian man sought oral rehabilitation of his edentulous maxilla but presented a hard nodules in the hard palate; in the second case, a 40-year-old Caucasian woman was referred for frequent trauma of palatal mucosa during mastication, aesthetic complaint, and discomfort caused by the trauma of her tongue in this area; and in the third case, a 45-year-old Caucasian woman presented with a lesion on the palate that caused difficulty swallowing. When the Torus palatinus was impairing the basic physiological functions of the patients, all cases were surgically treated, improving the patients' quality of life. FINAL CONSIDERATION: The dentist should be properly prepared to choose the best from among the existing surgical approaches for each individual lesion in order to improve the results and avoid possible complications.

  3. Hereditary multiple exostosis with secondary malignization: case report

    Energy Technology Data Exchange (ETDEWEB)

    Coutinho, A.M.N.; Pitella, F.A.; Coura Filho, G.B.; Costa, P.L.A.; Ono, C.R.; Watanabe, T.; Sapienza, M.T.; Hironaka, F.; Cerri, G.G.; Buchpiguel, C.A. [Universidade de Sao Paulo (USP), SP (Brazil). Inst. de Radiologia. Centro de Medicna Nuclear


    Full text: Introduction: Hereditary Multiple Exostosis (HME) or multiple osteochondromatosis is a skeletal development anomaly which is characterized by generalized exostoses in the bones, mainly in long bone metaphyses, appearing during childhood and adolescence. The transmission is autosomal dominant, its prevalence varies from 1/50,000 to 9/1,000,000 in Europe, and around 10% of cases show no family history. Case Report: Description of an HME case with two secondary malignization episodes. The data was taken from the patient's chart and from imaging exams from the hospital files. WASB, a 19-year-old male, hospitalized after being pre-diagnosed with HME and complaints of bone-consistent mass in the right gluteal region and a lump in the posterior region of the right leg, associated to multiple bone lumps all over the body. A magnetic resonance imaging (MRI) was performed along with a bone scintillography with {sup 99m}Tc-MDP which showed multiple osteogenic lesions in the thorax, pelvic bones and long bones with periarticular prevalence in the lower limbs. The suspicion of malignancy in the right iliac area was raised due to the MRI result and to the higher intensity captured in the scintillography, confirming chondrosarcoma grade I of malignancy in the biopsy. The patient suffered interileo abdominalis amputation of the right lower limb with good evolution and control scintillography performed after 1 and 1,5 years. In the second controlling procedure, the patient complained about pain in the left knee, and a MRI suggested a new secondary malignization. The hypothesis of a head of left fibula osteochondroma with signs of aggressiveness was confirmed following surgery. Discussion: In HME, the exostoses grow along with the individual, ceasing with the epiphyseal fusion. The growth of these formations after skeletal maturation suggests activity of exostoses and, in most times, it is a sign of malignant transformation, which turns almost every time into

  4. Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

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    Akbaroghli S


    Full Text Available Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center and Department, Iran University of Medical Sciences (IUMS, 3Medical Genetics Department, School of Medicine, Shahid Beheshti University of Medical Sciences, 4Medical Genetics Department, National Institute for Genetic Engineering and Biotechnology, 5Department of Neuroscience, Iran Medical University, Tehran, Iran; 6Department of Veterinary Preclinical Sciences, Faculty of Veterinary Medicine, Universiti Putra Malaysia (UPM, Serdang, Malaysia *These authors contributed equally to this work Background: Hereditary multiple osteochondromas (HMO, previously named hereditary multiple exostoses (HME, is an autosomal dominant skeletal disorder characterized by the growth of multiple osteochondromas and is associated with bony deformity, skeletal growth reduction, nerve compression, restriction of joint motion, and premature osteoarthrosis. HMO is genetically heterogeneous, localized on at least three chromosomal loci including 8q24.1 (EXT1, 11p11-p13 (EXT2, and 19p (EXT3. The median age of diagnosis is 3 years; almost all affected individuals are diagnosed by age 12. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%.Methods and results: This study was performed on an Iranian family with nine affected individuals from three consecutive generations. Here, the proband was an affected woman who received genetic counseling prior to pregnancy. All exons of the three genes were examined in the proband using polymerase chain reaction and sequencing methods (the last member of this family is a male with severe deformities and lesions, especially around his large joints. Exon 4 of EXT1 (c.1235 G>A was changed in affected

  5. Case report: Chronic arthritis of fetlock joint in the horse

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    Toholj Bojan


    Full Text Available Diseases of extremities in horses are the most significant part of the pathology in this species. This paper shows neurectomy as the ultimo ratio in the treatment of chronic arthritis of the fetlock joint in the horse. This disease is characterized by the appearance of exostoses in the area of the fetlock joint which reduces the mobility of the joint and causes pain during movement. The disease was diagnosed in a clinical examination, with a probe of the flexion of the suspected joint, and using diagnostic anesthesia. After data were collected in this way, we opted for neurectomy of the n.palmaris medialis. The operation was performed in general anesthesia. Local anesthesia was also applied as proximal palmar anesthesia. The postoperative course was smooth. Following the withdrawal of the edema and the healing of the wound, the lameness ceased and the usability value of the stallion was restored.

  6. Cavernous sinus syndrome due to osteochondromatosis in a cat. (United States)

    Perazzi, Anna; Bernardini, Marco; Mandara, Maria T; De Benedictis, Giulia M; De Strobel, Francesca; Zotti, Alessandro


    A 1-year-old sexually intact male Korat cat was referred for ophthalmological consultation due to anisocoria. Mydriasis with external ophthalmoplegia and absence of pupillary light responses in the right eye and nasofacial hypalgesia were seen. Cavernous sinus syndrome (CSS) was suspected. Bilateral deformities of the jaw and phalangeal bones, severe spinal pain and abnormal conformation of the lumbar spine were also present. Radiographic examination revealed several mineralised masses in the appendicular and axial skeleton, indicative of multiple cartilaginous exostoses. For further investigation of the CSS-related neurological deficits, the cat underwent computed tomography (CT) examination of the skull. CT images revealed a non-vascularised, calcified, amorphous mass originating from the right lateral skull base and superimposing on the sella turcica. Based on the severity of diffuse lesions and owing to the clinical signs of extreme pain, the cat was euthanased. A diffuse skeletal and intracranial osteochondromatosis was diagnosed histologically.

  7. Muscle impingement: MR imaging of a painful complication of osteochondromas

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    Uri, D.S. [Department of Radiology, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104 (United States); Dalinka, M.K. [Department of Radiology, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104 (United States); Kneeland, J.B. [Department of Radiology, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104 (United States)


    The purpose of this study was to describe the magnetic resonance (MR) appearance of a newly recognized complication of osteochondromas. Two patients presented with pain and swelling over known osteochondromas. Plain radiographic studies were unrevealing. MR examinations were obtained to characterize the exostoses further and evaluate areas of palpable fullness. Increased signal was present in the muscles on T2-weighted images, which correlated with physical findings and was believed to represent muscle injury due to the osteochondroma. Pain and fullness may result from a number of osteochondroma-related complications, the most worrisome of which is malignant degeneration. Muscular impingement and injury should be considered in the differential diagnosis of pain and swelling in the region of an exostosis. MR imaging allows distinction of this entity, which may be radiographically occult and confused clinically with fracture, bursitis, or malignant degeneration. (orig.). With 2 figs.

  8. Hyperostotic bone disease in red pandas (Ailurus fulgens). (United States)

    Lynch, Michael; McCracken, Helen; Slocombe, Ronald


    Three adult red pandas (Ailurus fulgens) developed multiple periarticular exostoses in their elbow joints. Two of these animals also had extensive periosteal new bone formation and osteosclerosis of the ulnae and radii and mild periosteal new bone deposition on the femurs. One animal also showed extensive hyperostosis of the cranium and mandibles. Dietary concentrations of calcium and phosphorus were estimated to be adequate, but dietary vitamin A and D appeared excessive when compared with recommended levels for this species. Serum vitamin A concentrations were not elevated in the two most severely affected animals, but their liver vitamin A content was higher than what is considered normal for most domestic animal species. Serum 25-hydroxy vitamin D concentrations were within normal ranges for domestic species. A definitive diagnosis for the cause of the lesions was not established, but hypervitaminosis A was suspected.

  9. Jacob's disease associated with temporomandibular joint dysfunction: a case report. (United States)

    Capote, Ana; Rodríguez, Francisco J; Blasco, Ana; Muñoz, Mario F


    Jacob's disease is regarded a rare condition in which a joint formation is established between an enlarged mandibular coronoid process and the inner aspect of the zygomatic body. Chronic temporomandibular joint (TMJ) disk displacement has been proposed as etiological factor of coronoid process enlargement. We present a 23-year-old woman with long-standing TMJ dysfunction and restricted interincisal opening, who developed a progressive zygomatic asymmetry. The patient underwent treatment by intraoral coronoidectomy and homolateral TMJ arthroscopy in the same surgery. The histopathological diagnosis of the coronoid sample was cartilage-capped exostoses with presence of articular fibrous cartilage. Although the low prevalence of this entity, it should be considered as a possible diagnosis in patients with progressive limitation of mouth opening, although a TMJ syndrome may be present as a cause of this entity.

  10. Skeletal Pathology of Eastern Grey Kangaroos (Macropus giganteus) Exposed to High Environmental Fluoride Levels in South-Eastern Australia. (United States)

    Hufschmid, J; Beveridge, I; Coulson, G; Walker, G; Shen, P; Reynolds, E; Charles, J


    Significantly elevated bone fluoride concentrations have been reported in a population of eastern grey kangaroos (Macropus giganteus) resident near a fluoride-emitting aluminum smelter in southeastern Australia. This paper describes the skeletal and synovial joint lesions observed post mortem in the same sample of kangaroos (n = 76). The prevalence and severity of skeletal lesions, specifically the formation of multiple, large, smooth exostoses over the diaphysis of long bones (especially, but not exclusively, on the tibia, fibula and metatarsi), were positively associated with bone fluoride concentration. So too were lesions of degenerative joint disease, including periarticular osteophytosis, articular cartilage erosion/ulceration, synovial hyperplasia and joint capsular fibrosis. Joint lesions were most commonly seen in the knee, hock and metatarsophalangeal joints. This is the first study to describe in detail the full range of lesions induced by chronic fluorosis in a marsupial species. Copyright © 2015 Elsevier Ltd. All rights reserved.

  11. Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume.

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    Sophie J Bernelot Moens

    Full Text Available Exotosin (EXT proteins are involved in the chain elongation step of heparan sulfate (HS biosynthesis, which is intricately involved in organ development. Loss of function mutations (LOF in EXT1 and EXT2 result in hereditary exostoses (HME. Interestingly, HS plays a role in pancreas development and beta-cell function, and genetic variations in EXT2 are associated with an increased risk for type 2 diabetes mellitus. We hypothesized that loss of function of EXT1 or EXT2 in subjects with hereditary multiple exostoses (HME affects pancreatic insulin secretion capacity and development. We performed an oral glucose tolerance test (OGTT followed by hyperglycemic clamps to investigate first-phase glucose-stimulated insulin secretion (GSIS in HME patients and age and gender matched non-affected relatives. Pancreas volume was assessed with magnetic resonance imaging (MRI. OGTT did not reveal significant differences in glucose disposal, but there was a markedly lower GSIS in HME subjects during hyperglycemic clamp (iAUC HME: 0.72 [0.46-1.16] vs. controls 1.53 [0.69-3.36] nmol·l-1·min-1, p<0.05. Maximal insulin response following arginine challenge was also significantly attenuated (iAUC HME: 7.14 [4.22-10.5] vs. controls 10.2 [7.91-12.70] nmol·l-1·min-1 p<0.05, indicative of an impaired beta-cell reserve. MRI revealed a significantly smaller pancreatic volume in HME subjects (HME: 72.0±15.8 vs. controls 96.5±26.0 cm3 p = 0.04. In conclusion, loss of function of EXT proteins may affect beta-cell mass and insulin secretion capacity in humans, and render subjects at a higher risk of developing type 2 diabetes when exposed to environmental risk factors.

  12. [Trichorhinophalangeal syndrome. Apropos of a case]. (United States)

    Marchand, C; Villedieu, M H; Plauchu, H; Rigot-Muller, G; Chouvet, B


    The trichorhinopharyngeal (TRP) syndrome type I (Giedion, 1966) is characterized clinically by craniofacial dysmorphism with sparse hair, pear-shaped nose and long philtrum, and abnormalities of the extremities (disabling deformities of the hands and feet). The diagnosis is confirmed by the finding, at radiology, of cone-shaped epiphyses at the base of the middle phalanges. The discovery of patients presenting with other clinical and radiological abnormalities (growth retardation, microcephaly, mental retardation, multiple exostoses) has led to the individualization of a type II syndrome (Langer-Giedion, 1969). We report here a new case of TRP type I and review current data concerning the syndrome, notably the clinical and genetic differences between types I and II. Our case concerned a 43-year-old female patient who consulted for sparse, fine, brittle and very unaesthetic hair obliging her to wear a wig permanently. Examination disclosed other morphological abnormalities, including disabling deformities of the extremities (clinobrachydactyly of the hands and feet which had been present since the age of 6-7 years) and peculiar facial features with a globulous, pear-shaped nose and a long philtrum. She was of small size and had no mental retardation. These clinical symptoms and the finding of cone-shaped epiphyses (type 12) at the base of the middle phalanges led to affirm diagnosis of TRP type I. The case appeared to be solitary. The TRP syndrome was individualized by Giedion in 1966. It is usually detected during the later childhood. In 1969, Langer and Gorlin reported similar features in patients who, in addition, presented with multiple exostoses (hands and feet and body skeleton).(ABSTRACT TRUNCATED AT 250 WORDS)

  13. [Morphological investigations of deep sole ulcers in cattle. Part 1: The complicated Rusterholz ulcer]. (United States)

    Gehringer, Susanne; Müller, Matthias; Maierl, Johann


    In the context of a larger study on morphological changes of deep sole ulcers, claws with Rusterholz ulcer (RU) were investigated to describe the varied pathological changes of the RU. Hind limbs of 55 cows displaying external signs of complicated sole ulcers were examined externally and internally. To examine the samples internally, a sagittal section was performed. Furthermore, the material was examined histologically and after bone maceration. A total of 59 claws of 112 digits with 120 deep sole ulcers displayed a complicated RU. The most frequent findings were: fibrosis of the heel cushion, partly in conjunction with cartilaginous/osseous areas; osteomyelitis of the tuberculum flexorium, resulting in osteolysis of the macerated bones, often together with peripheral periosteal exostoses; avulsion fracture of the tuberculum flexorium in severely deformed claws; arthritis in the distal joint, frequently in conjunction with subchondral osteomyelitis, with the macerated bone showing osteolyses near the fossae synoviales and in the periphery of the joint surface as well as periosteal exostoses on the insertion point of the joint capsule. Changes in the bursa podotrochlearis, the common digital flexor tendon sheath and the pastern joint occurred less frequently. Fibrosis and ossification of the heel cushion were classified as metaplasia, because these processes were considered an adaption to non-physiological strain of the heel. As the infection of the RU spreads, the tuberculum flexorium may play a central role. In advanced cases, an inflammation-related weakening of the bone tissue can lead to a pathological fracture with avulsion of the deep digital flexor tendon. Secondary infection of the distal joint may occur subsequent to any avulsion of the tendon in combination with opening of the joint cavity. More frequently, the infection is likely to have expanded from the insertion point of the joint capsule to the subchondral bone to ultimately infest the joint cavity

  14. Spinal cord stimulation for treatment of the pain associated with hereditary multiple osteochondromas

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    Mirpuri RG


    trialing multiple painful areas with a 16-contact lead in order to avoid multiple trials and placement. Keywords: Exostoses, bone neoplasms/pathology, hereditary exostoses/multiple, back pain/therapy, pain management, spinal cord stimulation, treatment outcome, chronic pain, case reports

  15. Functional Requirements for Heparan Sulfate Biosynthesis in Morphogenesis and Nervous System Development in C. elegans. (United States)

    Blanchette, Cassandra R; Thackeray, Andrea; Perrat, Paola N; Hekimi, Siegfried; Bénard, Claire Y


    The regulation of cell migration is essential to animal development and physiology. Heparan sulfate proteoglycans shape the interactions of morphogens and guidance cues with their respective receptors to elicit appropriate cellular responses. Heparan sulfate proteoglycans consist of a protein core with attached heparan sulfate glycosaminoglycan chains, which are synthesized by glycosyltransferases of the exostosin (EXT) family. Abnormal HS chain synthesis results in pleiotropic consequences, including abnormal development and tumor formation. In humans, mutations in either of the exostosin genes EXT1 and EXT2 lead to osteosarcomas or multiple exostoses. Complete loss of any of the exostosin glycosyltransferases in mouse, fish, flies and worms leads to drastic morphogenetic defects and embryonic lethality. Here we identify and study previously unavailable viable hypomorphic mutations in the two C. elegans exostosin glycosyltransferases genes, rib-1 and rib-2. These partial loss-of-function mutations lead to a severe reduction of HS levels and result in profound but specific developmental defects, including abnormal cell and axonal migrations. We find that the expression pattern of the HS copolymerase is dynamic during embryonic and larval morphogenesis, and is sustained throughout life in specific cell types, consistent with HSPGs playing both developmental and post-developmental roles. Cell-type specific expression of the HS copolymerase shows that HS elongation is required in both the migrating neuron and neighboring cells to coordinate migration guidance. Our findings provide insights into general principles underlying HSPG function in development.

  16. Functional Requirements for Heparan Sulfate Biosynthesis in Morphogenesis and Nervous System Development in C. elegans.

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    Cassandra R Blanchette


    Full Text Available The regulation of cell migration is essential to animal development and physiology. Heparan sulfate proteoglycans shape the interactions of morphogens and guidance cues with their respective receptors to elicit appropriate cellular responses. Heparan sulfate proteoglycans consist of a protein core with attached heparan sulfate glycosaminoglycan chains, which are synthesized by glycosyltransferases of the exostosin (EXT family. Abnormal HS chain synthesis results in pleiotropic consequences, including abnormal development and tumor formation. In humans, mutations in either of the exostosin genes EXT1 and EXT2 lead to osteosarcomas or multiple exostoses. Complete loss of any of the exostosin glycosyltransferases in mouse, fish, flies and worms leads to drastic morphogenetic defects and embryonic lethality. Here we identify and study previously unavailable viable hypomorphic mutations in the two C. elegans exostosin glycosyltransferases genes, rib-1 and rib-2. These partial loss-of-function mutations lead to a severe reduction of HS levels and result in profound but specific developmental defects, including abnormal cell and axonal migrations. We find that the expression pattern of the HS copolymerase is dynamic during embryonic and larval morphogenesis, and is sustained throughout life in specific cell types, consistent with HSPGs playing both developmental and post-developmental roles. Cell-type specific expression of the HS copolymerase shows that HS elongation is required in both the migrating neuron and neighboring cells to coordinate migration guidance. Our findings provide insights into general principles underlying HSPG function in development.

  17. Normative size of the osseous part of calcaneal bursa and its comparison with other calcaneal articular areas. (United States)

    Mahato, Niladri Kumar


    The retro-calcaneal bursa presents a synovial and a non-synovial osseous part of variable dimensions. Studies objectively measuring the variability of the size of this osseous bursal surface cannot be found in literature. The objective of this study was to investigate (i) the dimension variability of the bony part of the bursa and (ii) the relationship of this surface to other articulating areas of the calcaneus. A digital planimeter was used to measure the bursae (n=86) and other articular surface areas of the calcaneus and statistically compared with ANOVA and correlation estimations. The osseous area measured 1.12 (±0.55) cm2, with only the superior articulating area demonstrating a weak correlation to this osseous surface. The osseous area presents a weak correlation with the axial articulating area of the calcaneus. Information on the size of the bony bursa may help safe excision of retrocalcaneal exostoses and in Achille's tendon repair around the posterior tuberosity. Copyright © 2017 Elsevier Ltd. All rights reserved.

  18. Osteopathology in Rhinocerotidae from 50 Million Years to the Present.

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    Kelsey T Stilson

    Full Text Available Individual elements of many extinct and extant North American rhinocerotids display osteopathologies, particularly exostoses, abnormal textures, and joint margin porosity, that are commonly associated with localized bone trauma. When we evaluated six extinct rhinocerotid species spanning 50 million years (Ma, we found the incidence of osteopathology increases from 28% of all elements of Eocene Hyrachyus eximius to 65-80% of all elements in more derived species. The only extant species in this study, Diceros bicornis, displayed less osteopathologies (50% than the more derived extinct taxa. To get a finer-grained picture, we scored each fossil for seven pathological indicators on a scale of 1-4. We estimated the average mass of each taxon using M1-3 length and compared mass to average pathological score for each category. We found that with increasing mass, osteopathology also significantly increases. We then ran a phylogenetically-controlled regression analysis using a time-calibrated phylogeny of our study taxa. Mass estimates were found to significantly covary with abnormal foramen shape and abnormal bone textures. This pattern in osteopathological expression may reflect a part of the complex system of adaptations in the Rhinocerotidae over millions of years, where increased mass, cursoriality, and/or increased life span are selected for, to the detriment of long-term bone health. This work has important implications for the future health of hoofed animals and humans alike.

  19. Antecubital Fossa Solitary Osteochondroma with Associated Bicipitoradial Bursitis

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    Colin Ng


    Full Text Available Antecubital fossa lesions are uncommon conditions that present to the orthopaedic clinic. Furthermore, the radius bone is an uncommonly reported location for an osteochondroma, especially when presenting with a concurrent reactive bicipitoradial bursitis. Osteochondromas are a type of developmental lesion rather than a true neoplasm. They constitute up to 15% of all bone tumours and up to 50% of benign bone tumours. They may occur as solitary or multiple lesions. Multiple lesions are usually associated with a syndrome known as hereditary multiple exostoses (HME. Malignant transformation is known to occur but is rare. Bicipitoradial bursitis is a condition which can occur as primary or secondary (reactive pathology. In our case, the radius bone osteochondroma caused reactive bicipitoradial bursitis. The differential diagnosis of such antecubital fossa masses is vast but may be narrowed down through a targeted history, stepwise radiological investigations, and histological confirmation. Our aim is to ensure that orthopaedic clinicians keep a wide differential in mind when dealing with antecubital fossa mass lesions.

  20. Bony spurs projecting in the obturator foramen. (United States)

    Singh, R


    The obturator foramen is large oval aperture in males or irregularly triangular aperture in females in the hipbone, situated anteroinferior to the acetabulum between the pubis and ischium. The dry bone under study is a male left sided hipbone. It contains the obturator groove through which the obturator nerve and vessels pass. During analysis of hipbones in the osteology laboratory of CSM Medical University Lucknow, UP, India, a hipbone was found in which bony spurs or exostoses were projecting from the margins into the obturator foramen. These bony projections in the obturator foramen constitute a new anatomical variant in the hipbone, as they have not been reported before. These bony spurs may impinge on the obturator nerve and vessels causing neurovascular complications and also trauma to the soft tissues during biomechanical movements. In addition, these bony spurs may cause spasms of the obturator internus and externus muscles, causing groin pain. These bony projections may also lead to misinterpretation of radiographs. Thus, knowledge of these bony spurs is of paramount importance to anatomists, surgeons, sport physicians, and radiologists.

  1. A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012

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    Cui Yazhou


    Full Text Available Abstract Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs in China. This study systematically reviewed GSDs as defined in “Nosology and Classification of genetic skeletal disorders (2010 version” using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been reported. The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dysplasia, mucopolysaccharidosis, multiple cartilaginous exostoses, neurofibromatosis type 1 (NF1, osteopetrosis, achondroplasia, enchondromatosis (Ollier, and osteopoikilosis, accounting for 76.5% (12,312 cases of the total cases. Five groups (group 8, 12, 14, 18, 21 defined by “Nosology and Classification of genetic skeletal disorders” have not been reported in the Chinese biomedical literature. Gene mutation testing was performed in only a minor portion of the 16,099 cases of GSDs (187 cases, 1.16%. In total, 37 genes for 41 different GSDs were reported in Chinese biomedical literature, including 43 novel mutations. This review revealed a significant imbalance in rare disease identification in terms of geographic regions and hospital levels, suggesting the need to create a national multi-level network to meet the specific challenge of care for rare diseases in China.

  2. First Reported Cases of Biomechanically Adaptive Bone Modeling in Non-Avian Dinosaurs. (United States)

    Cubo, Jorge; Woodward, Holly; Wolff, Ewan; Horner, John R


    Predator confrontation or predator evasion frequently produces bone fractures in potential prey in the wild. Although there are reports of healed bone injuries and pathologies in non-avian dinosaurs, no previously published instances of biomechanically adaptive bone modeling exist. Two tibiae from an ontogenetic sample of fifty specimens of the herbivorous dinosaur Maiasaura peeblesorum (Ornithopoda: Hadrosaurinae) exhibit exostoses. We show that these outgrowths are cases of biomechanically adaptive periosteal bone modeling resulting from overstrain on the tibia after a fibula fracture. Histological and biomechanical results are congruent with predictions derived from this hypothesis. Histologically, the outgrowths are constituted by radial fibrolamellar periosteal bone tissue formed at very high growth rates, as expected in a process of rapid strain equilibration response. These outgrowths show greater compactness at the periphery, where tensile and compressive biomechanical constraints are higher. Moreover, these outgrowths increase the maximum bending strength in the direction of the stresses derived from locomotion. They are located on the antero-lateral side of the tibia, as expected in a presumably bipedal one year old individual, and in the posterior position of the tibia, as expected in a presumably quadrupedal individual at least four years of age. These results reinforce myological evidence suggesting that Maiasaura underwent an ontogenetic shift from the primitive ornithischian bipedal condition when young to a derived quadrupedal posture when older.

  3. Whole-body imaging of the musculoskeletal system: the value of MR imaging

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    Schmidt, Gerwin P.; Reiser, Maximilian F.; Baur-Melnyk, Andrea [University Hospitals Munich/Grosshadern, LMU, Institute of Clinical Radiology, Munich (Germany)


    In clinical practice various modalities are used for whole-body imaging of the musculoskeletal system, including radiography, bone scintigraphy, computed tomography, magnetic resonance imaging (MRI), and positron emission tomography-computed tomography (PET-CT). Multislice CT is far more sensitive than radiographs in the assessment of trabecular and cortical bone destruction and allows for evaluation of fracture risk. The introduction of combined PET-CT scanners has markedly increased diagnostic accuracy for the detection of skeletal metastases compared with PET alone. The unique soft-tissue contrast of MRI enables for precise assessment of bone marrow infiltration and adjacent soft tissue structures so that alterations within the bone marrow may be detected before osseous destruction becomes apparent in CT or metabolic changes occur on bone scintigraphy or PET scan. Improvements in hard- and software, including parallel image acquisition acceleration, have made high resolution whole-body MRI clinically feasible. Whole-body MRI has successfully been applied for bone marrow screening of metastasis and systemic primary bone malignancies, like multiple myeloma. Furthermore, it has recently been proposed for the assessment of systemic bone diseases predisposing for malignancy (e.g., multiple cartilaginous exostoses) and muscle disease (e.g., muscle dystrophy). The following article gives an overview on state-of-the-art whole-body imaging of the musculoskeletal system and highlights present and potential future applications, especially in the field of whole-body MRI. (orig.)

  4. A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report. (United States)

    Smaili, W; Elalaoui, S Chafai; Meier, S; Zerkaoui, M; Sefiani, A; Heinimann, K


    Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation. We report the first case of a Moroccan family, a father and his three children, in which the diagnosis of type III TRPS was suspected based on severe clinical and radiological features. Molecular analysis of the TRPS1 gene revealed a novel missense mutation in exon 6, (p.Ala932Ser), located in the GATA-type DNA-binding zinc finger domain. Our observations in this kindred support the previous genotype-phenotype results suggesting that patients with more pronounced facial characteristics and more severe shortening of hands and feet are more likely to have mutation in exon 6 of TRPS1.

  5. Bovine calves as ideal bio-indicators for fluoridated drinking water and endemic osteo-dental fluorosis. (United States)

    Choubisa, S L


    Relative susceptibility to fluoride (F) toxicosis in the form of osteo-dental fluorosis was observed in an observational survey of 2,747 mature and 887 immature domestic animals of diverse species living in areas with naturally fluoridated (>1.5 ppm F) drinking water. These animals included buffaloes (Bubalus bubalis), cattle (Bos taurus), camels (Camelus dromedarius), donkeys (Equus asinus), horses (Equus caballus), goats (Capra hircus), and sheep (Ovis aries). Of these mature and immature animals, 899 (32.7 %) and 322 (36.3 %) showed evidence of dental fluorosis with varying grades, respectively. Their incisor teeth were stained with light to deep brownish color. On clinical examination, 31.2 % mature and 10.7 % immature animals revealed periosteal exostoses, intermittent lameness, and stiffness of tendons in the legs as signs of skeletal fluorosis. The maximum susceptibility to fluoride toxicosis was found in bovines (buffaloes and cattle) followed by equines (donkeys and horses), flocks (goats and sheep), and camelids (camels). The bovine calves were found to be more sensitive and highly susceptible to F toxicosis and revealed the maximum prevalence (92.2 %) of dental fluorosis. This indicates that bovine calves are less tolerant and give early sign of F poisoning (dental fluorosis) and therefore, they can be considered as bio-indicators for fluoridated water as well as for endemicity of osteo-dental fluorosis. Causes for variation in susceptibility to F toxicosis (fluorosis) in various species of domestic animal are also discussed.

  6. Hálux valgo: estudo comparativo entre duas técnicas cirúrgicas de osteotomia proximal de adição Hallux valgus: comparative study between two surgical techniques of proximal addition osteotomy

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    Luiz Carlos Ribeiro Lara


    Full Text Available OBJETIVO: Comparar clínica e radiograficamente os resultados da correção do hálux valgo, através de duas técnicas de osteotomia de adição: uma utilizando-se da exostose ressecada e outra, mediante a fixação com placa para cunha de adição. MÉTODOS: Avaliamos 24 pés em 19 pacientes, com média de idade de 51,3 anos, portadores de hálux valgo, com seguimento médio de 50,1 meses. Submeteram-se à técnica de osteotomia de adição com exostose óssea (OAEO 13 pés e à osteotomia de adição com placa para cunha de adição (OPCA 11 pés. Foram avaliados no pré e pós operatório o escore AOFAS, os ângulos intermetatársicos 1 e 2, e ângulo de valgismo do hálux. RESULTADOS: Na técnica OAEO a média no pré-operatório do AOFAS foi 46,6 pontos, AIM 14º e AVH 32º, enquanto no pós-operatório AOFAS 81,3 pontos, AIM 9º e AVH 25ºcom 92,3% de resultados satisfatórios. Na técnica OPCA a média no pré-operatório do AOFAS foi 42,1 pontos, AIM 15º e AVH 29º, enquanto no pós-operatório AOFAS 77,4 pontos, AIM 11º e AMF 23º com 81,8% de resultados satisfatórios. CONCLUSÕES: Ambas as técnicas cirúrgicas mostraram-se eficazes no tratamento do hálux valgo, clínica e radiograficamente, sem diferença estatística entre elas. Nível de evidência III, Estudo retrospectivo comparativo.OBJECTIVE: To clinically and radiographically compare the results of treatment of hallux valgus, by two addition osteotomy techniques: one using resected exostosis, and the other using a plate fixation for addition wedge. METHODS: We evaluated 24 feet of 19 patients, mean age 51.3 years, affected by hallux valgus, with a mean follow-up of 50.1 months. 13 feet underwent addition osteotomy with resected exostosis (AORE and 11 patients (11 feet underwent addition osteotomy with plate (AOP. The AOFAS score, intermetatarsal 1 and 2 angles, and hallux valgus angle were evaluated before and after surgery. RESULTS: In the AORE technique, the mean

  7. [Femoral artery pseudoaneurysms encountered in orthopedics and traumatology]. (United States)

    Raherinantenaina, F; Rajaonanahary, T M A; Rakoto Ratsimba, H N


    Most published articles regarding orthopedic- and trauma-related femoral artery pseudoaneurysms (FAPs) are case reports in English. Reported cases are often associated with a literature review but actually provide little robust data. We wanted to summarize the current knowledge on diagnostic and therapeutic features of these FAPs. A new case of superficial FAP is described followed by a review of the literature. A bibliographic search was performed online (PubMed, ScinceDirect) from 1964 to 2015 using the descriptors "traumatic femoral pseudoaneurysm, orthopedic surgery, osteochondroma". A total of 64 cases of FAPs was analyzed. There were 50 men with an average age of 40.72±26.45 years old. The most common clinical presentation was painful swelling (34%). Arteriography was the commonest radiological investigation used (63%). The main etiologies were orthopedic injuries (47%), surgery of the upper thigh (30%) and femoral osteochondromas (23%). Arterial injuries included superficial femoral (47%) and profunda femoris artery (50%). The treatment was open surgery (56%) or endovascular repair (36%). Deep femoral artery and its branches were embolized (47%) or ligated (38%). Endovascular stenting was performed in 30% of posttraumatic FAPs. All FAPs relating to osteochondromas were repaired surgically. Postoperative courses were uneventful in 95% of patients. Endovascular embolization is preferred in management of postsurgical FAPs which have usually involved the deep femoral artery. Endovascular stenting graft may be proposed for posttraumatic FAPs, for which the superficial femoral trunk is the most often involved vessel. Surgical repair should be performed when endovascular stenting graft is not feasible. Surgical repair is mandatory for all FAPs secondary to traumatic exostoses. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  8. Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice. (United States)

    Sgariglia, Federica; Candela, Maria Elena; Huegel, Julianne; Jacenko, Olena; Koyama, Eiki; Yamaguchi, Yu; Pacifici, Maurizio; Enomoto-Iwamoto, Motomi


    Long bones are integral components of the limb skeleton. Recent studies have indicated that embryonic long bone development is altered by mutations in Ext genes and consequent heparan sulfate (HS) deficiency, possibly due to changes in activity and distribution of HS-binding/growth plate-associated signaling proteins. Here we asked whether Ext function is continuously required after birth to sustain growth plate function and long bone growth and organization. Compound transgenic Ext1(f/f);Col2CreERT mice were injected with tamoxifen at postnatal day 5 (P5) to ablate Ext1 in cartilage and monitored over time. The Ext1-deficient mice exhibited growth retardation already by 2weeks post-injection, as did their long bones. Mutant growth plates displayed a severe disorganization of chondrocyte columnar organization, a shortened hypertrophic zone with low expression of collagen X and MMP-13, and reduced primary spongiosa accompanied, however, by increased numbers of TRAP-positive osteoclasts at the chondro-osseous border. The mutant epiphyses were abnormal as well. Formation of a secondary ossification center was significantly delayed but interestingly, hypertrophic-like chondrocytes emerged within articular cartilage, similar to those often seen in osteoarthritic joints. Indeed, the cells displayed a large size and round shape, expressed collagen X and MMP-13 and were surrounded by an abundant Perlecan-rich pericellular matrix not seen in control articular chondrocytes. In addition, ectopic cartilaginous outgrowths developed on the lateral side of mutant growth plates over time that resembled exostotic characteristic of children with Hereditary Multiple Exostoses, a syndrome caused by Ext mutations and HS deficiency. In sum, the data do show that Ext1 is continuously required for postnatal growth and organization of long bones as well as their adjacent joints. Ext1 deficiency elicits defects that can occur in human skeletal conditions including trabecular bone loss

  9. Autosomal dominant transmission of a Goldenhar-like syndrome: Description of a family and report of a sporadic case with a de novo 4p16;8q24.11 translocation

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    Graganm H.N. Jr.; Hixon, H.; Bacino, C.A. [Univ. of Iowa, Iowa City, IA (United States)] [and others


    We report vertical transmission of a Goldenhar-like syndrome, including a father and 5 offspring, with male-to-male transmission and variable features that include hearing loss, ear anomalies (microtia, ear tags/pits), branchial cysts, ocular/periocular dermoids, micrognathia and seizures. We also report an individual with an apparently balanced de novo reciprocal translocation with breakpoints at 4p16 and 8q24.11. This individual has unilateral microtia, an epibulbar dermoid cyst, facial asymmetry with a small chin, and seizures. In addition to these features resembling those seen in the family above, she has multiple exostoses, supraventricular tachycardia, hypoglycemia and mild developmental delays. Based on the overlap in physical findings between this family and the individual with the de novo reciprocal translocation, linkage studies on the family were intiated. Preliminary results exclude linkage to HOX 7 at 4p16.1 but not to 8q. The brancho-oto-renal syndrome has previously been localized to 8q11-8q13, but linkage to this region appears unlikely. Although most cases of Goldenhar syndrome appear to be sporadic, there are a few reports of autosomal dominant inheritance (MIM No. 164210). One such family showed vertical transmission of dermoids, ear anomalies, hearing loss, micrognathia and vertebral anomalies, but no branchial cysts. Another family showed sensorineural deafness, preauricular pits, and branchial fistulae, and other families reveal ear anomalies, branchial fistulas, and hearing loss. These latter families appear to lack ocular/periocular dermoids, and appear to be affected by a different disorder (MIM No. 125100). Further clinical delineation of such families, combined with genetic linkage analysis, should help to sort out this heterogeneity.

  10. Correlation of Pain and Fluoride Concentration in Allogeneic Hematopoietic Stem Cell Transplant Recipients on Voriconazole. (United States)

    Barajas, Megan R; McCullough, Kristen B; Merten, Julianna A; Dierkhising, Ross A; Bartoo, Gabriel T; Hashmi, Shahrukh K; Hogan, William J; Litzow, Mark R; Patnaik, Mrinal M; Wilson, John W; Wolf, Robert C; Wermers, Robert A


    Supportive care guidelines recommend antimold prophylaxis in hematopoietic stem cell transplant (HSCT) recipients deemed to have high risk for invasive fungal infection, leading to long-term use of voriconazole after allogeneic HSCT in patients who remain immunocompromised. Voriconazole has been associated with periostitis, exostoses, and fluoride excess in patients after solid organ transplantation, HSCT, and leukemia therapy. The aims of this study were to describe the frequency and clinical presentation of patients presenting with pain and fluoride excess among allogeneic HSCT patients taking voriconazole, to identify when a plasma fluoride concentration was measured with respect to voriconazole initiation and onset of pain, and to describe the outcomes of patients with fluoride excess in the setting of HSCT. A retrospective review was conducted of all adult allogeneic HSCT patients receiving voriconazole at Mayo Clinic in Rochester, Minnesota, between January 1, 2009 and July 31, 2012. Of 242 patients included, 32 had plasma fluoride measured to explore the etiology of musculoskeletal pain. In 31 patients with fluoride measurement while on voriconazole, 29 (93.5%) had elevated levels. The median plasma fluoride was 11.1 μmol/L (range, 2.4 to 24.7). The median duration of voriconazole was 163 days (range, 2 to 1327). The median time to fluoride measurement was 128 days after voriconazole initiation (range, 28 to 692). At 1 year after the start of voriconazole after HSCT, 15.3% of patients had developed pain associated with voriconazole use and 35.7% developed pain while on voriconazole after 2 years. Of the patients with an elevated fluoride level, 22 discontinued voriconazole; pain resolved or improved in 15, stabilized in 3, and worsened in 4 patients. Ten patients continued voriconazole; pain resolved or improved in 7, was attributable to alternative causes in 2, and undefined in 1. Serum creatinine, estimated glomerular filtration rate, alkaline phosphatase

  11. Value of whole body MRI and dynamic contrast enhanced MRI in the diagnosis, follow-up and evaluation of disease activity and extent in multiple myeloma

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    Dutoit, Julie C., E-mail:; Vanderkerken, Matthias A., E-mail:; Verstraete, Koenraad L., E-mail:


    Purpose: To evaluate the significance of dynamic contrast enhanced MRI (DCE-MRI) and whole body MRI (WB-MRI) in the diagnosis, prognosis and assessment of therapy for patients with monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM). Materials and methods: The retrospective study includes 219 patients providing 463 WB-MRI and DCE-MRI investigations for the subgroups MGUS (n = 70), MM active disease (n = 126; this includes 70 patients with new diagnosis of MM, according to the International Staging System (ISS): 41.4% ISS stage I, 20.0% ISS stage II, 7.1% ISS stage III, 31.4% insufficient for staging; and 56 patients with ‘(re-)active disease’: 16.07% relapse, 32.14% progressive disease and 51.79% stable disease) and MM remission (n = 23; 60.87% complete remission, 17.39% very good partial remission and 21.74% partial remission). Investigations of patients with hereditary multiple exostoses (n = 5), neurofibromatosis (n = 7) and healthy persons (n = 9) were added as control subjects (n = 21). WB-MRI evaluation was done by evaluating thirteen skeletal regions, providing a ‘skeletal score’. DCE-MRI images of the spine, were analyzed with regions-of-interest and time-intensity-curves (TIC). Results: All TIC parameters can significantly differentiate between the predefined subgroups (p < 0.001). One hundred days after autologous stem cell transplantation a 75% decrease of the slope wash-in value (p < 0.001) can be seen. A cubic regression trend between ‘skeletal score’ and slope wash-in (adj.R{sup 2} = 0.412) could demonstrate a significant increase bone marrow perfusion if MM affects more than 10 skeletal regions (p < 0.001), associated with a poorer prognosis (p < 0.001). Conclusion: DCE-MRI evaluation of the spine is useful for diagnosis of MM, follow-up after stem cell transplantation and evaluation of disease activity. A combined evaluation with WB-MRI and DCE-MRI provides additional micro-vascular information on the

  12. Analysis of the vacuum phenomenon in plain hip radiographs in children (United States)

    Liu, Zhenjiang; Yan, Wei; Zhang, Lijun


    exostoses (0.39%), 1 case of congenital coxa vara (0.39%), and 1 fracture of the femoral neck after surgery (0.39%). The 321 hips in the 258 cases were classified as complete (121 hips, 37.69%) or partial (200 hips, 62.31%) types according to the proportion of the lucency area in the hip joints and as linear (159 hips, 49.53%), crescent (151 hips, 47.04%), or irregular (11 hips, 3.43%) lucencies according to the shape of the lucency area in the hips. Conclusions: The vacuum phenomenon of the hip in children is found in frog-leg-position plain radiographs. It is easier to find the vacuum phenomenon in normal hips compared to cases with DDH. Frog-leg-position plain radiographs provide a better projection position for obtaining the vacuum phenomenon of the hip in children compared to AP-view plain radiographs. PMID:26064222

  13. Re-irradiation for painful heel spur syndrome. Retrospective analysis of 101 heels

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    Hautmann, M.G.; Koelbl, O. [University of Regensburg, Department of Radiotherapy, Regensburg (Germany); Neumaier, U. [MVZ Neumaier and Kollegen, Private Clinic for Radiotherapy, Regensburg (Germany)


    Rebestrahlung bei rezidivierten Schmerzen bzw. unzureichendem oder keinem Ansprechen auf die initiale Bestrahlungsserie, eine strukturierte Auswertung der Rebestrahlung existiert allerdings nicht. Ziel dieser Arbeit ist die strukturierte Auswertung der Rebestrahlung beim schmerzhaften Fersenspornsyndrom. Ausgewertet wurden Patienten aus zwei strahlentherapeutischen Institutionen. Insgesamt konnten 101 Fersen analysiert werden. Die Schmerzintensitaet wurde mit Hilfe der numerischen Rating-Skala (NRS) quantifiziert und zu den Zeitpunkten vor Bestrahlungsbeginn, direkt nach Radiatio, 6 und 12 Wochen, 6, 12 und 24 Monate nach Bestrahlung erfasst. 30,1 % der Patienten waren maennlich, 69,9 % weiblich bei einem medianen Alter von 56 Jahren. Bei 72,3 % lag eine Plantarfasziitis, bei 15,8 % eine Haglund-Exostose und bei 11,9 % eine Tendinitis der Achillessehne vor. Grund der Rebestrahlung war in 35,6 % kein Ansprechen und in 39,6 % ein unzureichendes Ansprechen auf die erste Bestrahlungsserie sowie in 24,8 % rezidivierte Schmerzen. Es zeigte sich fuer das Gesamtkollektiv eine signifikante Schmerzreduktion. Die mediane Schmerzintensitaet war 6 vor der Rebestrahlung, 2 nach 6 Wochen und 0 nach 12 und 24 Monaten. 73,6 % der Patienten waren 24 Monate nach Rebestrahlung schmerzfrei. Alle Subgruppen, insbesondere Patienten ohne und Patienten mit unzureichendem Ansprechen auf die initiale Bestrahlung bzw. Patienten mit rezidivierten Schmerzen hatten eine signifikante Schmerzreduktion. Zusammenfassend zeigt diese Arbeit, dass die Rebestrahlung beim schmerzhaften Fersenspornsyndrom eine effektive Therapie darstellt und dass alle Patientengruppen von der Therapie profitieren. (orig.)