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11 Possible Causes for Cartilage Biopsy Abnormal, Severely Disproportionate Short Stature, Short Extremities

  • 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] Before birth Possibly via prenatal ultrasound due to short extremities Genetic sampling if expected After birth X-ray findings Observation of common physical characteristics[littlepeopleuk.org] 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]

  • Schmid Metaphyseal Chondrodysplasia

    Bowing of the extremities, mild short stature and a waddling gait are evident at a young age.[ctgt.net] 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] , leg pains, bowed legs, increased lordosis, and waddling gait; - upper extremity: - mild wrist swelling; - flexion contractures of the elbows ; - lower extremities - more[wheelessonline.com]

  • Chondrodystrophy

    Type 1 (short limb dysplasia), the more common of the two, is characterised by a long trunk and extremely shortened extremities.[en.wikipedia.org] 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]

  • Ellis-Van Creveld Syndrome

    Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly[ncbi.nlm.nih.gov] The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia[jbsr.be] Main symptoms are a disproportional hyposomia, short extremities and polydactyly.[neocyst.de]

  • Leri-Weill Dyschondrosteosis

    Langer mesomelic dysplasia is characterized by extremely short stature along with underdeveloped or missing arm bones.[encyclopedia.com] 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] Also, SHOX deficiency is accompanied by short stature, mesomelic shortening of the limbs, decreased extremities to trunk ratio, increased sitting height, and radiological[docksci.com]

  • 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] Jeune syndrome Ellis–van Creveld syndrome SRPS type III Long bones Moderately shortened Shortened (rhizomelia) Severely shortened Ribs Short, horizontal Extremely short, horizontal[fetalultrasound.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]

  • Kniest Dysplasia

    If the diagnosis remains unclear, a bone or cartilage biopsy is in order.[symptoma.com] A short trunk with kyphosis, short extremities with prominent joints and restricted mobility are distinctive features which are present in the first few years of life.[raredisorders.imedpub.com] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.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] Patients carrying mutations within the five-aspartates repeat (aa 469-473) in the seventh CLR were extremely short (below -6 SD).[ncbi.nlm.nih.gov] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • 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] A physical examination revealed an atypical facial appearance, bilateral cataracts, sensitivity to touch in the extremities, shortness in the proximal segments of the long[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]

  • 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] Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities.[emedicine.medscape.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]