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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.[] Before birth Possibly via prenatal ultrasound due to short extremities Genetic sampling if expected After birth X-ray findings Observation of common physical characteristics[] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[]

  • Schmid Metaphyseal Chondrodysplasia

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

  • Chondrodystrophy

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

  • 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[] The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia[] Main symptoms are a disproportional hyposomia, short extremities and polydactyly.[]

  • Leri-Weill Dyschondrosteosis

    Langer mesomelic dysplasia is characterized by extremely short stature along with underdeveloped or missing arm bones.[] Abstract Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic[] Also, SHOX deficiency is accompanied by short stature, mesomelic shortening of the limbs, decreased extremities to trunk ratio, increased sitting height, and radiological[]

  • Saldino-Noonan Syndrome

    […] autopsy bilateral biopsy blastoma bron bronchial bronchogenic cyst bronchopulmonary dysplasia bronchus carcinoma cartilage cells chest cilia cleft clinical congenital diaphragmatic[] Jeune syndrome Ellis–van Creveld syndrome SRPS type III Long bones Moderately shortened Shortened (rhizomelia) Severely shortened Ribs Short, horizontal Extremely short, horizontal[] […] progresses to true and disproportionate microcephaly ; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs[]

  • Kniest Dysplasia

    If the diagnosis remains unclear, a bone or cartilage biopsy is in order.[] 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.[] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[]

  • 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[] Patients carrying mutations within the five-aspartates repeat (aa 469-473) in the seventh CLR were extremely short (below -6 SD).[] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[]

  • 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.[] A physical examination revealed an atypical facial appearance, bilateral cataracts, sensitivity to touch in the extremities, shortness in the proximal segments of the long[] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[]

  • 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[] Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities.[] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[]