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Rickets, scientific nomenclature: rachitis (from Greek ῥαχίτης rhakhítēs, [6] meaning 'in or of the spine'), is a condition that results in weak or soft bones in children and is caused by either dietary deficiency or genetic causes. [2] Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping.
Osteomalacia in children is known as rickets, and because of this, use of the term "osteomalacia" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.
For treating rickets, the American Academy of Pediatrics (AAP) has recommended that pediatric patients receive an initial two to three months of treatment with "high-dose" vitamin D therapy. In this regime, the daily dose of cholecalciferol is 1000 IU for newborns, 1000 to 5000 IU for 1- to 12-month-old infants, and 5000 IU for patients over 1 ...
Adult patients may present with worsening musculoskeletal symptoms, muscle weakness, [1] myalgia, bone pain and fatigue which are followed by recurrent bone fractures. Children present with difficulty in walking , stunted growth and deformities of the skeleton (features of rickets ). [ 2 ]
The prominent knobs of bone at the costochondral joints of rickets patients are known as a rachitic rosary or beading of the ribs.The knobs create the appearance of large beads under the skin of the rib cage, hence the name by analogy with the beads of a Catholic Christian rosary.
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The males are prone to manifesting symptoms in early adulthood with symptoms of calculi, rickets or even with kidney failure in more severe cases. [ 4 ] In humans, gene CLCN5 is located on chromosome Xp11.22, and has a 2238-bp coding sequence that consists of 11 exons that span 25 to 30 kb of genomic DNA and encode a 746-amino-acid protein. [ 7 ]
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