osteogenesis imperfecta…

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pectus excavatum, brittle bone disease, osteogenesis imperfecta, congenital, present from birth, condition of abnormal fragility, the bones, bone disorder, present at birth, an inherited disease, osteogenesis imperfecta, oi, classified into four major types, further subtypes, all four types of oi, defects, in the amount, structure of type 1 collagen, an important part, the bone matrix, collagen problem, a dominant genetic defect, defect acquired by several different mechanisms, defect inherited in an autosomal dominant pattern, affected parent, that a parent, a single gene, oi has a 50% chance of having a child, the disorder, child who inherits this gene, defect acquired by a spontaneous mutation occurring, in the individual egg, sperm that formed the child, in this case, neither parent carries a gene, the disorder, parents, in this case, no more at risk than the general population, having another child, the disorder, defect acquired, a pattern of inheritance, mosaicism, occurs, neither parent is affected, one carries a percentage of sperm, eggs which contain the genetic defect, though the parents, unaffected, of children, have the disorder, estimated, 2% to 7% of unaffected parents, had a child, oi, have another child, oi due, phenomenon of mosaicism, the bones, abnormally weak, oi, severity, the abnormality, enormously, from type 2 oi, lethal in infancy, birth, to type 1 oi, mild that the diagnosis is not made, in adulthood, three classic symptoms of oi includes fragile bones, early hearing loss, the eyes that appear bluish, blue sclerae, not all people, oi, have blue sclerae, hearing loss, all, have fragile bones, not all people, oi, ever break a bone, a variety of other symptoms found, in the various types of oi, bone fracture, broken bone, than one broken bone occurring, single episode, multiple, fractures present at birth, occuring after only minor trauma, deformed, short extremities, leg deformities, arm deformities, deafness, conductive hearing loss, occur in adolescents, adults, kyphosis, kyphoscoliosis, short stature, tooth abnormalities, low nasal bridge, pectus carinatum, pectus excavatum, pes planus, flat feet, joint laxity, hypermobility, easy bruising, bowed legs, a physical examination, confirm, fractures, deformities, bone x-rays, multiple healed fractures, diagnosis is made by collagen studies done on a skin punch biopsy, once the specific molecular diagnosis is known, family members, tested by a dna blood test, dna testing on prenatal chorionic villus samples, cvs, make the diagnosis, pregnancy, severe oi is visible on prenatal ultrasound, 16 weeks, fractures must be repaired quickly, in the usual ways to avoid deformities, no specific treatment, the underlying disease, several therapies, improve the quality of life, patients, oi, good nutrition, directed exercise is key in helping to optimize bone, muscle strength, physical rehabilitation, therapy, quite beneficial, swimming, excellent conditioning exercise, oi, surgical procedures, the placement of metal rods, bones, strengthen bones, prevent deformity, braces, walking aids, use of biphosphonates in children, oi is currently researched, promising results, medical interventions, bone marrow transplant, use of growth hormone, gene therapy, under investigation, permanent deformity, the extremities, brain damage, result from skull fractures, fatal, disease is grouped by type, type 1, compatible, normal life expectancy, type 2, lethal, die in early childhood, type 3, progressive deforming, decreased life expectancy, type 4, moderately severe, compatible, normal life expectancy, recurrent pneumonia, heart failure, cor pulmonale, brain damage, permanent deformity, breathing problems, hearing loss, diagnosed at birth, mild cases, not be detected, later in life, symptoms suggestive of this disorder occur, genetic counseling, prospective parents, disorder.