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19 Possible Causes for Pediatric Disorder, Rough Endoplasmic Reticulum Dilated, Severely Disproportionate Short Stature

  • Anauxetic Dysplasia

    Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders Pediatric Orthopedic Institute n.a. H. Turner Saint Petersburg Russia 2.[link.springer.com] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] […] hematologic disorders, including newly recognized ones.[books.google.com]

  • 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] Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.com] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov]

  • 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] ., BONE DYSPLASIA: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed., Oxford Press, 2002, 200.[mirc.luriechildrens.org] BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis.[ncbi.nlm.nih.gov]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    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] […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.de] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    Histologic examination revealed PAS-positive, amylase-resistant intracytoplasmic inclusion bodies in the chondrocytes, corresponding to dilated rough endoplasmic reticulum[ncbi.nlm.nih.gov] […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.com] We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk.[ncbi.nlm.nih.gov]

  • Pseudoachondroplasia

    Molecular pathology of pseudoachondroplasia Early electron microscopy studies of PSACH iliac crest biopsies showed dilated rough endoplasmic reticulum (rER) in chondrocytes[ncbi.nlm.nih.gov] Disorders of the Pediatric and Adolescent Spine. Spinal Manifestations of Skeletal Dysplasias. Original Text by Clifford R. Wheeless, III, MD.[wheelessonline.com] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[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] Turner Syndrome Guide For Families English & Spanish (Espanol) Constitutional Delay Other Resources Charity Ability Dwarfism Information Dwarfism / Short Stature Links, Birth Disorder[kumc.edu] […] by severe disproportionate short stature of prenatal onset.[emedicine.medscape.com]

  • Achondrogenesis

    Ultrastructural studies revealed prominently dilated rough endoplasmic reticulum containing a fine granular material with occasional fibrils in all chondrocytes.[ncbi.nlm.nih.gov] Disorders of growth hormone/insulin-like growth factor secretion and action. In: Sperling MA, ed. Pediatric Endocrinology. 4th ed.[nlm.nih.gov] […] by severe disproportionate short stature of prenatal onset.[emedicine.medscape.com]

  • Kniest Dysplasia

    rough endoplasmic reticulum, which earlier studies had shown were filled with type II procollagen.[ncbi.nlm.nih.gov] […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.com] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com]

  • Skeletal Dysplasia

    Ultrastructurally, the resting zone chondrocytes were large and round with condensed chromatin and dilated loops of rough endoplasmic reticulum.[ncbi.nlm.nih.gov] Chiropractors are not adequately trained in pediatric disorders to make a correct diagnosis or to recommend appropriate treatment.[chirobase.org] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]