![]() ![]() Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). This gene provides instructions for making an enzyme called 3β-hydroxysteroid-Δ8,Δ7-isomerase, which is responsible for one of the final steps in the production of cholesterol. X-linked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. The health problems associated with X-linked chondrodysplasia punctata 2 are often life-threatening in males. Affected males have some of the same features as affected females, as well as weak muscle tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects. However, a much more severe form of the condition has been reported in a small number of males. In affected females, X-linked chondrodysplasia punctata 2 is typically associated with normal intelligence and a normal lifespan. These eye abnormalities can impair vision. The cornea is the clear front surface of the eye. Other eye abnormalities that have been associated with this disorder include unusually small eyes ( microphthalmia) and small corneas (microcornea). Most people with X-linked chondrodysplasia punctata 2 have clouding of the lens of the eye ( cataracts ) from birth or early childhood. Most affected individuals also have sparse, coarse hair on their scalps. The scaly patches fade over time, leaving abnormally colored blotches of skin without hair (follicular atrophoderma). Infants with X-linked chondrodysplasia punctata 2 are born with dry, scaly patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. As a result of these abnormalities, people with this condition tend to have short stature. Other skeletal abnormalities seen in people with X-linked chondrodysplasia punctata 2 include shortening of the bones in the upper arms and thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine ( kyphoscoliosis ). The stippling is apparent in infancy but disappears in early childhood. In this form of chondrodysplasia punctata, the stippling typically affects the long bones in the arms and legs, the ribs, the spinal bones (vertebrae), and the cartilage that makes up the windpipe (trachea). It occurs almost exclusively in females.Īlthough the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. Submitted comments are subject to editing and editor review prior to posting.X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities.Read any comments already posted on the article prior to submission. Submit only on articles published within 6 months of issue date.(Exception: original author replies can include all original authors of the article) Submissions should not have more than 5 authors.Reference 1 must be the article on which you are commenting. Submissions must be You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid If you are responding to a comment that was written about an article you originally authored: Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment. You must have updated your disclosures within six months: If you are uploading a letter concerning an article: ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |