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2,168 Possible Causes for Cartilage Biopsy Abnormal, Heart Valve Disease, Severely Disproportionate Short Stature

  • Ellis-Van Creveld Syndrome

    , ventricular septal defects (VSD), atrial septal defects (ASD), and hypoplastic left heart syndrome. [3] Significant heart disease may manifest as cardiac murmur, along with[] The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia[] Congenital cardiac malformations occur in 50-60% of cases and include a number of possible defects, such as a single atrium, patent ductus, defects of the mitral and tricuspid valves[]

  • 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[] Other manifestations include audiovestibular damage; heart valve disease; and neurologic, ocular, and renal disease. Corticosteroids remain the major treatment.[] Other manifestations include audiovestibular damage; heart valve disease; and neurologic, ocular, and renal disease.[]

    Missing: Severely Disproportionate Short Stature
  • Leri-Weill Dyschondrosteosis

    Transmission and Detection of Hypertrophic Cardiomyopathy Mutations Hypertrophic cardiomyopathy is a type of heart disease that causes the heart muscle to become thicker than[] Abstract Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic[] Predominant and more severe in female (female-to-male ratio 4:1). Stature is short and disproportionate (adult height 135 cm [53.1 inches]).[]

  • Chondrodysplasia Punctata

    The presence of physical deformities at birth indicates RCDP, and x-rays and other imaging tests will show abnormalities in bones and cartilage development.[] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[] […] due to abnormal proteins in the cells.[]

  • Chondritis of the External Ear

    Occasionally, the aorta or heart valves are damaged.[] The often painful disease can cause joint deformity and be life-threatening if the respiratory tract, heart valves, or blood vessels are affected.[] […] system (eg, larynx, trachea, bronchi), cardiovascular system (eg, heart valves, blood vessels), and joints.[]

    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.[] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[] 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[]

    Missing: Heart Valve Disease
  • Mucopolysaccharidosis 6

    Nearly all children have some form of heart disease, usually involving valve dysfunction.[] Short stature is described as disproportionate because the trunk may be shorter than the legs. In severe cases, final height may be less than 4 feet (120 centimeters).[] : Diseases of the heart valves, high blood pressure, weakening of the heart wall Head: Hydrocephalus (accumulation of a large amount of cerebrospinal fluid in the skull) Pulmonary[]

    Missing: Cartilage Biopsy Abnormal
  • 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.[] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[]

    Missing: Heart Valve Disease
  • 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[] Final height is not as severely affected as in achondroplasia and is usually in the range 130–165 cm.[]

    Missing: Heart Valve Disease
  • Influenza

    BACKGROUND: People with Human Immunodeficiency Virus (HIV) are highly susceptible to influenza-related morbidity and mortality. In order to assess comparative efficacy of influenza vaccine strategies among HIV-positive people, we performed a systematic review and Bayesian network meta-analysis (NMA). METHODS: In[…][]

    Missing: Cartilage Biopsy Abnormal Severely Disproportionate Short Stature

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