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191 Possible Causes for Mutation in the Thyroid Hormone Receptor Interactor 11 Gene, Short Thin Ribs

  • Achondrogenesis Type 1B

    Short long bones (radius, femur and especially ulna) without bowing. Thin ribs with multiple fractures and flared anterior ends. Small thorax with a protuberant abdomen.[fetalultrasound.com] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] Short and slightly thin (but usually not fractured) ribs Iliac bone ossification limited to the upper part, giving a crescent-shaped, "paraglider-like" appearance on x-ray[ncbi.nlm.nih.gov]

  • Achondrogenesis

    The ribs are short, thin, and horizontally oriented.[rrnursingschool.biz] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] A nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), showed defects that[symptoma.com]

  • Achondrogenesis, Type 1A

    Short, thin ribs. Absent ossification of vertebral bodies; lateral pedicles usually ossified. Crescent shaped ilium (only the upper part is mineralised).[genetics4medics.com] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[dict.eudic.net] Short long bones (radius, femur and especially ulna) without bowing. Thin ribs with multiple fractures and flared anterior ends. Small thorax with a protuberant abdomen.[fetalultrasound.com]

  • Atelosteogenesis Type 2

    Babygram showed narrowing of upper thorax, thin ribs, round ilia, and short long bones and metacarpals ( Figure 1 (b)).[file.scirp.org] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[drsherazi110.blogspot.com] Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone[thehealthscience.com]

  • Malnutrition

    Practitioners may also look out for the following signs as indicators of malnutrition: Short stature; Thin arms and legs; Visible rib cage or vertebrae; Wasted buttocks; and[myvmc.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Platyspondylic Lethal Skeletal Dysplasia Type Torrance

    thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping[genatlas.medecine.univ-paris5.fr] Category Subcategory Feature Abdomen External Features Protuberant abdomen Chest External Features Narrow chest Ribs Sternum Clavicles And Scapulae Short, thin ribs Growth[mnglabs.com] […] long bone Long bone shortening 0003026 Short neck Decreased length of neck 0000470 Short ribs 0000773 Thin ribs Slender ribs 0000883 Showing of 43 Last updated: 12/1/2018[rarediseases.info.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Spigelian Hernia

    Tall thin persons with angulated 12 th rib will have a smaller superior lumbar triangle than short obese persons with horizontal 12 th ribs. [55], [56] The inferior lumbar[sudanmedicalmonitor.org] […] by the external oblique muscle, (2) at the site of the penetration of the 12 th dorsal intercostal neurovascular pedicle, and (3) between the inferior edge of the of the rib[sudanmedicalmonitor.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Early Infantile Epileptic Encephalopathy Type 2

    ribs Proportionate short stature Severe postnatal growth retardation Decreased skull ossification Hypomagnesemia Delayed closure of the anterior fontanelle Tetany Generalized[mendelian.co] Transient ischemic attack Hyperventilation Broad jaw Loss of consciousness Long clavicles Hypocalcemia Delayed cranial suture closure Hypoparathyroidism Slender long bone Thin[mendelian.co]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • X-linked Distal Spinal Muscular Atrophy Type 3

    The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin[abcam.com] The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin[genecards.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Coxa Valga

    […] and clavicles, and broadening of short tubular bones with increased transparency and thin cortices (summary by Dhar et al., 2010).[ncbi.nlm.nih.gov] […] calvaria with prominent wormian bones, diaphyseal widening of the long tubular bones in early childhood with wide undermineralized metaphyses in older individuals, widened ribs[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

Further symptoms