Create issue ticket

31 Possible Causes for Rough Endoplasmic Reticulum Dilated, Skeletal Dysplasia

  • Anauxetic Dysplasia

    Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias characterized by different degrees from metaphyseal to spondylo-meta-epiphyseal[ncbi.nlm.nih.gov] Abstract Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias characterized by different degrees from metaphyseal to spondylo-meta-epiphyseal[zora.uzh.ch] Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common[ncbi.nlm.nih.gov]

  • Achondrogenesis

    Ultrastructural studies revealed prominently dilated rough endoplasmic reticulum containing a fine granular material with occasional fibrils in all chondrocytes.[ncbi.nlm.nih.gov] Skeletal Dysplasia is an umbrella term for what is more commonly known as "dwarfism".[littlefireosuna.blogspot.com] Electron micrographs showed inclusion bodies of dilated rough endoplasmic reticulum in the chondrocytes and the presence of sparse collagen fibers in the cartilage matrix.[ncbi.nlm.nih.gov]

  • Kniest Dysplasia

    rough endoplasmic reticulum, which earlier studies had shown were filled with type II procollagen.[ncbi.nlm.nih.gov] The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias.[books.google.com] CONCLUSIONS: The combined use of 3D-CT with ultrasonography is a power tool for the prenatal diagnosis of congenital skeletal dysplasias.[ncbi.nlm.nih.gov]

  • Hypochondrogenesis

    Ultrastructural studies revealed prominently dilated rough endoplasmic reticulum containing a fine granular material with occasional fibrils in all chondrocytes.[ncbi.nlm.nih.gov] MRI accurately delineated the axial skeleton in this case and is an effective clinical tool for diagnosing skeletal dysplasias in utero.[ncbi.nlm.nih.gov] Hypochondrogenesis Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.[lpamrs.memberclicks.net]

  • Diastrophic Dysplasia

    Ultrastructure reveals some structurally intact chondrocytes with a single large fat inclusion, slightly dilated rough endoplasmic reticulum, and abundant glycogen.[ncbi.nlm.nih.gov] Patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques.[ncbi.nlm.nih.gov] METHODS: Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia.[ncbi.nlm.nih.gov]

  • Spondylometaphyseal Dysplasia

    Electron microscopic studies revealed large vacuoles of dilated rough endoplasmic reticulum within the cytoplasm of chondrocytes.[olivialugani.com] KEYWORDS: Corner fracture; Skeletal dysplasia; Spondylometaphyseal dysplasia; Sutcliffe type[ncbi.nlm.nih.gov] We present a previously undescribed skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal[ncbi.nlm.nih.gov]

  • Multiple Epiphyseal Dysplasia

    By electron microscopy, chondrocytes from epiphyseal cartilage exhibited dilated rough endoplasmic reticulum containing linear lamellae of alternating electron-dense and electron-lucent[ncbi.nlm.nih.gov] Multiple Epiphyseal Dysplasia (MED): A Rare Type of Skeletal Dysplasia. Bangabandhu Sheikh Mujib Medical University Journal , 5 (1), 57-60.[banglajol.info] Chondrocytes showed normal ultrastructural characteristics without dilation of the rough endoplasmic reticulum.[ncbi.nlm.nih.gov]

  • Dyggve-Melchior-Clausen Syndrome

    Electron microscopic study of cutaneous cells of an affected child showed dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles.[ncbi.nlm.nih.gov] Abstract We report a case of Dyggve-Melchior-Clausen syndrome, a skeletal dysplasia with short trunk dwarfism and mental retardation.[ncbi.nlm.nih.gov] Electron microscopy demonstrated chondrocytes with dilated cisternae of rough endoplasmic reticulum containing fine granular or amorphous material, similar to those reported[ncbi.nlm.nih.gov]

  • Greenberg Dysplasia

    The histopathological changes included chondrocytes with dilated rough endoplasmic reticulum and inclusion bodies with homogeneous material of intermediate electron density[ncbi.nlm.nih.gov] Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported[ncbi.nlm.nih.gov] Greenberg Center for Skeletal Dysplasias. Schedule an Appointment 410-614-0977 Our team of experts at the Greensburg Center for Skeletal Dysplasias.[hopkinsmedicine.org]

  • Spondyloepiphyseal Dysplasia

    Histologic examination revealed PAS-positive, amylase-resistant intracytoplasmic inclusion bodies in the chondrocytes, corresponding to dilated rough endoplasmic reticulum[ncbi.nlm.nih.gov] Radiographic examination showed findings consistent with skeletal dysplasia tarda.[ncbi.nlm.nih.gov] Articular cartilage from an adult who had SEDL and carried this mutation contained chondrocytes with abundant Golgi complexes and dilated rough endoplasmic reticulum (ER).[ncbi.nlm.nih.gov]

Further symptoms

Similar symptoms