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3,685 Possible Causes for Cartilage Biopsy Abnormal, Hearing Impairment, Severely Disproportionate Short Stature

  • Rheumatoid Arthritis

    Impairment in Patients with Rheumatoid Arthritis: Analysis of Data from the Korean National Health and Nutrition Examination Survey, PLOS ONE, 11, 10, (e0164591), (2016).[doi.org] Chang, Sun Young Baek, Seon Woo Kim, Yeong Hee Eun, In Young Kim, Jaejoon Lee, Eun-Mi Koh, Hoon-Suk Cha and Emilio Russo, Evaluation of Audiometric Test Results to Determine Hearing[doi.org]

    Missing: Severely Disproportionate Short Stature
  • Relapsing Polychondritis

    […] in the nose Inflammation of the eye Cartilage damage in the respiratory tract Hearing or balance problems A biopsy of the affected cartilage (most often from the ear) may[merckmanuals.com] Auricular chondritis (96%), arthritis (54%), hearing impairment (42%), ocular (42%), dermal (26%), cardiovascular (11%) and laryngotracheal involvement (11%) characterized[ncbi.nlm.nih.gov] Imaging data was subsequently correlated with corresponding clinical symptoms like fever, dyspnea, stridor, uveitis, pain, hearing impairment as well as with acute-phase-inflammatory[ncbi.nlm.nih.gov]

    Missing: Severely Disproportionate Short Stature
  • Chondrodystrophy

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] impairment.[ncbi.nlm.nih.gov] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • Kniest Dysplasia

    If the diagnosis remains unclear, a bone or cartilage biopsy is in order.[symptoma.com] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com] Six of the seven patients had significant hearing impairment and five of the seven patients exhibited clefting abnormalities.[ncbi.nlm.nih.gov]

  • Leri-Weill Dyschondrosteosis

    impairments.[elsevier.es] Abstract Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic[ncbi.nlm.nih.gov] Predominant and more severe in female (female-to-male ratio 4:1). Stature is short and disproportionate (adult height 135 cm [53.1 inches]).[accessanesthesiology.mhmedical.com]

  • Schmid Metaphyseal Chondrodysplasia

    impairment Deafness Hearing defect [ more ] 0000365 Hypercalcemia High blood calcium levels Increased calcium in blood [ more ] 0003072 Micrognathia Little lower jaw Small[rarediseases.info.nih.gov] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] Brachydactyly Short fingers or toes 0001156 Craniosynostosis 0001363 Diaphyseal thickening Thickening of shaft or central part of long bones 0005019 Frontal bossing 0002007 Hearing[rarediseases.info.nih.gov]

  • Ellis-Van Creveld Syndrome

    Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, et al: Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations[karger.com] The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia[jbsr.be]

  • Chondroblastoma

    A case report of a 38-year-old man who presented with the left-sided hearing impairment and temporal swelling was reviewed.[ncbi.nlm.nih.gov] The common clinical manifestations reported are hearing impairment, tinnitus and ear stuffiness along with a swelling in the temporal region.[neurologyindia.com]

    Missing: Severely Disproportionate Short Stature
  • Jansen's Metaphyseal Chondrodysplasia

    impairment Deafness Hearing defect [ more ] 0000365 Hip contracture 0003273 Hypercalcemia High blood calcium levels Increased calcium in blood [ more ] 0003072 Hypercalciuria[rarediseases.info.nih.gov] […] alkaline phosphatase Greatly elevated alkaline phosphatase High serum alkaline phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase [ more ] 0003155 Hearing[rarediseases.info.nih.gov]

    Missing: Severely Disproportionate Short Stature
  • Diastrophic Dysplasia

    However, according to reports in the literature, other affected infants and children may experience hearing impairment due to such auditory canal stenosis or abnormal fusion[rarediseases.org] BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis.[ncbi.nlm.nih.gov] Abstract Diastrophic dysplasia (DD), a congenital skeletal dysplasia, is characterized by short, disproportionate stature, multiple severe spinal and joint deformities, and[ncbi.nlm.nih.gov]

    Missing: Cartilage Biopsy Abnormal

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