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3,042 Possible Causes for Genu Varum, Mild Rib Sclerosis, Short Extremities

  • Pseudoachondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] With age, her rhizomelic dwarfism became increasingly visible, and since completed 15 months of age, when she started to walk, the disease was complicated with genu varum,[ncbi.nlm.nih.gov] He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile.[ncbi.nlm.nih.gov]

  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Typically, patients with achondroplasia who experience knee pain are evaluated for more common and well-known etiologies such as genu varum, ligamentous instability, and neurogenic[ncbi.nlm.nih.gov] […] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com]

  • Schmid Metaphyseal Chondrodysplasia

    Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees.[genecards.org] varum).[checkorphan.org] Bowing of the extremities, mild short stature and a waddling gait are evident at a young age.[ctgt.net]

  • Mucopolysaccharidosis

    It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com] Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement.[ncbi.nlm.nih.gov] The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis
  • Hypochondroplasia

    The mother presents short limbed stature, short iliac bones, short femoral necks, short stubby tibia and mildly increased fibular length and genu varum.[ncbi.nlm.nih.gov] Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[ncbi.nlm.nih.gov] Shortening of the lower limbs, genu varum (bowing of the legs), an increased sitting height to standing height ratio, and a reduced growth rate is most frequently detected[symptoma.com]

    Missing: Mild Rib Sclerosis
  • Osteogenesis Imperfecta

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov] It is characterised by deformity of bones increasing with age and by extreme short stature due to repeated childhood fractures.[patient.info]

  • Cartilage Hair Hypoplasia

    Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and[ncbi.nlm.nih.gov] 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] varum), and the tibia shorter than the fibula.[medicinenet.com]

    Missing: Mild Rib Sclerosis
  • Rickets

    They were examined due to short stature and genu varum of both tibias.[ncbi.nlm.nih.gov] Clinical characteristics included: delays of sitting, walking, and teething; bone and chest deformities; widened wrists and ankles; and bowed lower extremities.[ncbi.nlm.nih.gov] On examination gingival hypertrophy and genu varum were observed.[ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis
  • Spondyloepimetaphyseal Dysplasia Type Shohat

    varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.[orpha.net] May 1, 2017 By Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation[checkrare.com] varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three members of a Jewish family of Iraqi origin[malacards.org]

    Missing: Mild Rib Sclerosis
  • Spondyloepimetaphyseal Dysplasia Type Matrilin-3

    A: Patient 2 at the age of 3 years and 4 months, note the genu varum.[docslide.com.br] Note the short extremities, relatively normal hands, flat facies, and exaggerated lordosis.[clinicalgate.com] May 1, 2017 By Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation[checkrare.com]

    Missing: Mild Rib Sclerosis

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