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182 Possible Causes for Abnormalities of Proximal Metaphyses of Tibiae and Fibulae, Cartilage Biopsy Abnormal, Severely Disproportionate Short Stature

  • Schmid Metaphyseal Chondrodysplasia

    […] of proximal femur Proximal tibia Proximal fibula Distal radius Distal ulna Anterior cupping of ribs Splayed ribs Sclerosis of ribs Irregularity of acetabular roof Note that[checkorphan.org] 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] Waddling gait Coxa vara Genu varum Lower rib cage flaring Enlarged capital femoral epiphyses Femoral bowing Metaphyseal abnormality of distal femur Metaphyseal abnormality[checkorphan.org]

  • Leri-Weill Dyschondrosteosis

    […] femoral neck Abnormal tuberosity of humerus Bowing of the tibia Dorsal subluxation of ulna Exostoses from proximal tibia and/or fibula Limited elbow mobility Limited wrist[datagenno.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] 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]

  • 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: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae
  • 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: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae
  • 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: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae
  • Rheumatoid Arthritis

    To review the diagnostic and prognostic value of anti-mutated citrullinated vimentin (MCV) in rheumatoid arthritis, taking into account the already available serology. Medline was searched via PubMed (1966 to May 2008) for anti-MCV and related terms, arthritis and arthropathies. Studies with anti-MCV,[…][ncbi.nlm.nih.gov]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae Severely Disproportionate Short Stature
  • Relapsing Polychondritis

    […] in the nose Inflammation of the eye Cartilage damage in the respiratory tract Hearing or balance problems A biopsy of the affected cartilage (most often from the ear) may[merckmanuals.com] A tissue cartilage biopsy can also be conducted which will reveal inflammation in cases of Relapsing Polychondritis. What Are Treatments For Relapsing Polychondritis?[epainassist.com] […] show characteristic abnormalities but is not required for diagnosis.[merckmanuals.com]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae Severely Disproportionate Short Stature
  • Chondroblastoma

    Chondroblastoma located in the femoral head is one of the locations accounting for frequent recurrence. One of the reasons for this is the difficulty in obtaining appropriate surgical access to it for adequate removal of tumors. The authors present and illustrate a trapdoor procedure for the surgical treatment[…][ncbi.nlm.nih.gov]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae Severely Disproportionate Short Stature
  • Chondritis of the External Ear

    NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version Topic Resources Perichondritis of the ear can be a diffuse inflammatory, but not necessarily infectious, process resulting in diffuse swelling, redness, and pain of the pinna, or an abscess between the cartilage and the[…][merckmanuals.com]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae Severely Disproportionate Short Stature
  • Chondromyxoid Fibroma

    Chondromyxoid fibroma is a type of cartilaginous tumor.Most cases are characterised by GRM1 gene fusion or promoter swapping. It can be associated with a translocation at t(1;5)(p13;p13).A chondromyxoid fibroma (CMF) is an extremely rare benign cartilaginous neoplasm which accounts for 1% bone tumours. Typically[…][en.wikipedia.org]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae Severely Disproportionate Short Stature