نتایج جستجو برای: metaphyseal chondrodysplasia

تعداد نتایج: 2147  

Journal: :Journal of pediatric orthopedics 1993
S A Hoffinger R C Henderson J B Renner M C Dales G T Rab

Twenty involved hips in 16 patients with Legg-Calvé-Perthes disease (LCP) were studied with both plain radiographs and magnetic resonance imaging (MRI) scans to better evaluate the existence of "metaphyseal" changes. Thirty-four sets of radiographs and MRI scans were reviewed in a blinded fashion and compared for the presence and location of these changes. Of 23 hips with plain radiographic met...

Journal: :AJR. American journal of roentgenology 2014
Beverly P Wood

OBJECTIVE The purpose of this study was to review the hypothesis that classic metaphyseal lesions represent traumatic changes in abused infants and compare these lesions with healing rickets. MATERIALS AND METHODS Using a PubMed search, a multidisciplinary team reviewed studies that reported the histopathologic correlation of classic metaphyseal lesions. Selective studies of growth plate inju...

Journal: :Archives of Disease in Childhood 1934

Journal: :American journal of medical genetics. Part A 2014
Luisa Bonafé Jinlong Liang Maria W Gorna Qingyan Zhang Russia Ha-Vinh Ana Belinda Campos-Xavier Sheila Unger Jacques S Beckmann Antony Le Béchec Brian Stevenson Andres Giedion Xuanzhu Liu Giulio Superti-Furga Wei Wang André Spahr Andrea Superti-Furga

Metaphyseal dysplasia, Spahr type (MDST; OMIM 250400) was described in 1961 based on the observation of four children in one family who had rickets-like metaphyseal changes but normal blood chemistry and moderate short stature. Its molecular basis and nosologic status remained unknown. We followed up on those individuals and diagnosed the disorder in an additional member of the family. We used ...

Journal: :Journal of medical genetics 1998
L J Sheffield A H Osborn W M Hutchison D O Sillence S M Forrest S J White H H Dahl

Sixteen males and two females with symmetrical (mild) type of chondrodysplasia punctata were tested for mutations in the X chromosome located arylsulphatase D and E genes. We identified one nonsense and two missense mutations in the arylsulphatase E gene in three males. No mutations were detected in the arylsulphatase D gene. Family studies showed segregation of the mutant genes establishing X ...

2015
O. H. Sandberg P. Aspenberg

OBJECTIVES Healing in cancellous metaphyseal bone might be different from midshaft fracture healing due to different access to mesenchymal stem cells, and because metaphyseal bone often heals without a cartilaginous phase. Inflammation plays an important role in the healing of a shaft fracture, but if metaphyseal injury is different, it is important to clarify if the role of inflammation is als...

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