Create issue ticket

2,942 Possible Causes for Cartilage Biopsy Abnormal, Mild Rib Sclerosis, Short Extremities

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

  • 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] 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] All extremity long bones were affected and short for age. The growth failure was progressive.[ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis
  • Chondrodystrophy

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Patients are dwarfed, with normal trunks and shortened extremities.[medical-dictionary.thefreedictionary.com] Extremities are short and bowed. Hips are usually flexed and abducted in a "frog-leg" position.[ncbi.nlm.nih.gov]

  • 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] Some cases continue to relapse for over 20 years, but others become inactive within a short period.[pcds.org.uk] 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]

    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]

    Missing: Cartilage Biopsy Abnormal
  • Pseudoachondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] 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] Esra Döğer, Aysun Bideci, Öznur Boyunağa, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Orhun Çamurdan & Peyami Cinaz Aim: Pseudoacondroplasia is a short extremity dwarfism characterized[abstracts.eurospe.org]

    Missing: Cartilage Biopsy Abnormal
  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] […] 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] The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the[medicinenet.com]

    Missing: Cartilage Biopsy Abnormal
  • Chondromyxoid Fibroma

    […] benign bone tumours Males slightly more than Females Peak age 10 - 30 years (75%) Usually eccentric metaphyseal lesions Clinically Presents with a chronic ache 75% lower extremity[orthopaedicsone.com] 50% tibia X-Rays Rounded or oval lytic area Usually eccentrically placed in metaphysis of long bones Appears as a central lesion in short tubular bones with cortical expansion[orthopaedicsone.com]

    Missing: Mild Rib Sclerosis
  • 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[ncbi.nlm.nih.gov] Main symptoms are a disproportional hyposomia, short extremities and polydactyly.[neocyst.de] Fig. 2 Photograph shows the patient’s disproportionately short extremities and additional postaxial digit on each hand.[smj.org.sg]

    Missing: Mild Rib Sclerosis
  • Leri-Weill Dyschondrosteosis

    Langer mesomelic dysplasia is characterized by extremely short stature along with underdeveloped or missing arm bones.[encyclopedia.com] Also, SHOX deficiency is accompanied by short stature, mesomelic shortening of the limbs, decreased extremities to trunk ratio, increased sitting height, and radiological[docksci.com] The loss of both SHOX alleles causes the complete lack of SHOX and an extreme phenotype of osteodysplasia called Langer mesomelic dysplasia9,15,17).[docksci.com]

    Missing: Mild Rib Sclerosis