Create issue ticket

192 Possible Causes for Cartilage Biopsy Abnormal, Occipitoatlantal Instability, Severely Disproportionate Short Stature

  • Kniest Dysplasia

    If the diagnosis remains unclear, a bone or cartilage biopsy is in order.[] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[] A radiological evaluation will also reveal vertebral abnormalities like platyspondyly or more severe malformations.[]

  • Chondrodystrophy

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[] Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature[]

    Missing: Occipitoatlantal Instability
  • Cartilage Hair Hypoplasia

    Biopsy shows hypoplasia (underdevelopment) of cartilage to be the nature of the skeletal abnormality. The hair is unusually fine, sparse and light-colored.[] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[]

    Missing: Occipitoatlantal Instability
  • Leri-Weill Dyschondrosteosis

    Abstract Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic[] Predominant and more severe in female (female-to-male ratio 4:1). Stature is short and disproportionate (adult height 135 cm [53.1 inches]).[] […] clinical form that includes a disproportionately short stature.[]

    Missing: Occipitoatlantal Instability
  • Schmid Metaphyseal Chondrodysplasia

    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[] Final height is not as severely affected as in achondroplasia and is usually in the range 130–165 cm.[]

    Missing: Occipitoatlantal Instability
  • Ellis-Van Creveld Syndrome

    The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia[]

    Missing: Occipitoatlantal Instability
  • Rheumatoid Arthritis

    Please log in to edit this article. Edit Synonym: chronic polyarthritis (CP) Lay term: rheumatism German : Rheumatoide Arthritis 1 Definition Rheumatoid arthritis is a chronic inflammation system disease, which occurs in the interior skin ( synovium ), of a joint and causes a clinical picture of a polyarthritis.[…][]

    Missing: Occipitoatlantal Instability 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[] A tissue cartilage biopsy can also be conducted which will reveal inflammation in cases of Relapsing Polychondritis. What Are Treatments For Relapsing Polychondritis?[] […] show characteristic abnormalities but is not required for diagnosis.[]

    Missing: Occipitoatlantal Instability Severely Disproportionate Short Stature
  • Chondroblastoma

    Chondroblastoma is an uncommon and benign bone tumour. No more than 10 cases of lumbar chondroblastoma have been reported in the past 20 years. To describe the clinical presentations and radiological features of a rare case of chondroblastoma of the lumbar spine, this study reports one case involving the third[…][]

    Missing: Occipitoatlantal Instability Severely Disproportionate Short Stature
  • Chondritis of the External Ear

    NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version Topic Resources Perichondritis of the ear can be a diffuse inflammatory, but not necessarily infectious, process resulting in diffuse swelling, redness, and pain of the pinna, or an abscess between the cartilage and the[…][]

    Missing: Occipitoatlantal Instability Severely Disproportionate Short Stature