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11 Possible Causes for Cartilage Biopsy Abnormal, 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] 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]

  • 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]

  • 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]

  • 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]

  • 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]

  • 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] A radiological evaluation will also reveal vertebral abnormalities like platyspondyly or more severe malformations.[symptoma.com]

  • Multiple Epiphyseal Dysplasia

    Hunziker, Mats Paulsson, Raimund Wagener and Attila Aszodi, Abnormal Collagen Fibrils in Cartilage of Matrilin-1/Matrilin-3-deficient Mice, Journal of Biological Chemistry[doi.org] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] PSACH is a dominant condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthritis.[ncbi.nlm.nih.gov]

  • 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] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[dnatesting.uchicago.edu] […] due to abnormal proteins in the cells.[disability-benefits-help.org]

  • Saldino-Noonan Syndrome

    […] autopsy bilateral biopsy blastoma bron bronchial bronchogenic cyst bronchopulmonary dysplasia bronchus carcinoma cartilage cells chest cilia cleft clinical congenital diaphragmatic[books.google.com] […] progresses to true and disproportionate microcephaly ; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs[lookfordiagnosis.com] Thomas Stocker ‏ عرض مقتطف - 1989 عبارات ومصطلحات مألوفة abnormalities acini acinus AFIP Neg airway alveolar ducts alveoli amniotic fluid Arch Dis Child associated atresia[books.google.com]

  • Ulna Metaphyseal Dysplasia Syndrome

    From the histopathological examination of serial bone biopsies carried out in patient 1, we postulate that the normal coupling of hypertrophic cartilage resorption with vascular[academic.oup.com] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[flinders.edu.au] 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]

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