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229 Possible Causes for Cartilage Biopsy Abnormal, Severely Disproportionate Short Stature, Shortened Long Tubular Bones

  • Leri-Weill Dyschondrosteosis

    The homozygous state of the gene for Leri-Weill syndrome causes Langer mesomelic dysplasia which is characterized mainly by shortening of the long tubular bones, more markedly[ncbi.nlm.nih.gov] 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]

  • Pseudoachondroplasia

    Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] Definition A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower[uniprot.org]

    Missing: Cartilage Biopsy Abnormal
  • 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]

  • Jansen's Metaphyseal Chondrodysplasia

    BACKGROUND: An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansens's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations[…][ncbi.nlm.nih.gov]

    Missing: 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]

    Missing: Shortened Long Tubular Bones
  • 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: Shortened Long Tubular Bones
  • Spondyloepiphyseal Dysplasia Type Cantú

    Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and[docslide.com.br] Mild skeletal deformities, short stature, and weakness were also noted.[docslide.com.br]

    Missing: Cartilage Biopsy Abnormal
  • Mesomelic Dysplasia Type Langer

    The homozygous state of the gene for Leri-Weill syndrome causes Langer mesomelic dysplasia which is characterized mainly by shortening of the long tubular bones, more markedly[ncbi.nlm.nih.gov] From Wikidata Jump to navigation Jump to search Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening[wikidata.org] Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone[emedicine.medscape.com]

    Missing: Cartilage Biopsy Abnormal
  • 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: Shortened Long Tubular Bones
  • 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: Shortened Long Tubular Bones