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270 Possible Causes for Cartilage Biopsy Abnormal, Coronal Cleft of Vertebrae, Severely Disproportionate Short Stature

  • Kniest Dysplasia

    If the diagnosis remains unclear, a bone or cartilage biopsy is in order.[symptoma.com] Two key features to look for in a patient with Kniest dysplasia is the presence of dumb-bell shaped femur bones and coronal clefts in the vertebrae.[en.wikipedia.org] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com]

  • Chondrodystrophy

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

    Missing: Coronal Cleft of Vertebrae
  • 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.[medicinenet.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] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[ncbi.nlm.nih.gov]

    Missing: Coronal Cleft of Vertebrae
  • Leri-Weill Dyschondrosteosis

    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] […] clinical form that includes a disproportionately short stature.[frontiersin.org]

    Missing: Coronal Cleft of Vertebrae
  • 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[intechopen.com] Final height is not as severely affected as in achondroplasia and is usually in the range 130–165 cm. 2.1.1.3.[intechopen.com]

    Missing: Coronal Cleft of Vertebrae
  • Ellis-Van Creveld Syndrome

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

    Missing: Coronal Cleft of Vertebrae
  • Chondrodysplasia Punctata

    The presence of physical deformities at birth indicates RCDP, and x-rays and other imaging tests will show abnormalities in bones and cartilage development.[disability-benefits-help.org] Radiographic study showed stippling of carpal and tarsal bones, short humeri and coronal clefts in the vertebrae.[ncbi.nlm.nih.gov] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[dnatesting.uchicago.edu]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    clefting of the vertebrae, dwarfism with rhizomelic shortening of the limbs, joint contractures, congenital cataracts, ichthyosis, and mental retardation.[medical-dictionary.thefreedictionary.com] Rhizomelic chondrodysplasia punctata type 1 ( RCDP1 ; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic[ctgt.net] The vertebrae have coronal clefting. The cartilage abnormalities result in defective bone growth with severe growth retardation, short stature, and joint contractures.[disorders.eyes.arizona.edu]

    Missing: Cartilage Biopsy Abnormal
  • Rheumatoid Arthritis

    The revised criteria for the classification of rheumatoid arthritis (RA) were formulated from a computerized analysis of 262 contemporary, consecutively studied patients with RA and 262 control subjects with rheumatic diseases other than RA (non-RA). The new criteria are as follows: 1) morning stiffness in and[…][ncbi.nlm.nih.gov]

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

    Missing: Coronal Cleft of Vertebrae Severely Disproportionate Short Stature