Cases reported "Osteogenesis Imperfecta"

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1/161. Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

    Mutations in the type I collagen genes have been identified as the cause of all four types of osteogenesis imperfecta (OI). We now report a mutation that extends the phenotype associated with structural abnormalities in type I collagen. Two siblings presented with a history of back pain and were diagnosed with juvenile osteoporosis, based on clinical and radiological examination. Radiographs showed decreased lumbar bone density and multiple compression fractures throughout the thoracic and lumbar spines of both patients. One child has moderate short stature and mild neurosensory hearing loss. However, neither child has incurred the long bone fractures characteristic of OI. Protein studies demonstrated electrophoretically abnormal type I collagen in samples from both children. Enzymatic cleavage of rna:rna hybrids identified a mismatch in type I collagen alpha2 (COL1A2) mRNA. dna sequencing of COL1A2 cDNA subclones defined the mismatch as a single-base mutation (1715G --> A) in both children. This mutation predicts the substitution of arginine for glycine at position 436 (G436R) in the helical domain of the alpha2(I) chain. Analysis of genomic dna identified the mutation in the asymptomatic father, who is presumably a germ-line mosaic carrier. The presence of the same heterozygous mutation in two siblings strongly suggests that the probands display the full phenotype. Taken together, the clinical, biochemical, and molecular findings of this study extend the phenotype associated with type I collagen mutations to cases with only spine manifestations and variable short stature into adolescence.
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2/161. Ministernotomy for aortic valve replacement in a patient with osteogenesis imperfecta.

    Open heart operations in patients with osteogenesis imperfecta are associated with increased morbidity and mortality resulting from tissue friability and bone brittleness. We used a ministernotomy approach for aortic valve replacement in a patient with osteogenesis imperfecta, with clear benefits and a satisfactory outcome.
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3/161. Co-existence of osteogenesis imperfecta and hyperparathyroidism.

    osteogenesis imperfecta (OI) and hyperparathyroidism (HTP) are disorders affecting the skeletal system and calcium metabolism not evidently related to one another. We report a case in which both OI and HPT were present. Our female patient presented with hypercalcaemia (S-Ca2 1.59 mmol/l; normal range 1.15-1.30) and 4-gland parathyroid hyperplasia at 30 years of age. Since her first year she had fractures, blue sclera, hypermobile joints, short stature (height 1.51 m, weight 49.5 kg) but normal hearing, and dentiogenesis imperfecta (tooth disease caused by defective formation of dentin) was absent. This patient bears many similarities with the 5 patients reported previously but it is the only patient, to our knowledge, with OI and early onset of HPT (30 year old female). We have found the OI to be type 1. A minor improvement of the rate of bone turnover 10 months after parathyroidectomy indicates the HPT to be primary and suggests the OI type 1 and pHPT to be two different calcium metabolic diseases incidentally occurring in the same patient.
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4/161. Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken.

    We describe a fifth instance of hypophosphatasia presenting with prenatal findings suggestive of a very severe bone dysplasia but with a subsequently benign course. Spontaneous improvement of long-bone angulation began prenatally. The postnatal course has been encouraging. This sixth clinical form of hypophosphatasia, which we suggest should be called the benign prenatal form of hypophosphatasia, should be added to the differential diagnostic possibilities considered when angulation or bowing of long bones is discovered prenatally.
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5/161. Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?

    We report a 6 year old boy with multiple fractures owing to bilateral, peculiar, wave-like defects of the tibial corticalis with alternative hyperostosis and thinning. Furthermore, he had Wormian bones of the skull, dentinogenesis imperfecta, and a distinct facial phenotype with hypertelorism and periorbital fullness. collagen studies showed normal results. His sister, aged 2 years, showed the same facial phenotype and dental abnormalities as well as Wormian bones, but no radiographical abnormalities of the tubular bones so far. The mother also had dentine abnormalities but no skeletal abnormalities on x ray. This entity is probably the same as that described in a sporadic case by Suarez and Stickler in 1974. In spite of the considerable overlap with osteogenesis imperfecta (bone fragility, Wormian bones, and dentinogenesis imperfecta), we believe this disorder to be a different entity, in particular because of the unique cortical defects, missing osteopenia, and normal results of collagen studies.
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6/161. bone density measurements by computed tomography in osteogenesis imperfecta type I.

    The objectives of this study were (1) to determine whether there are differences in bone density in children versus adults with osteogenesis imperfecta type I (OI-type I) using computed tomography (CT) bone density measurements, (2) to determine whether there are differences in bone density between normal infants and infants with OI-type I using CT bone density measurements and (3) to determine whether CT bone density measurements could be helpful in investigating the infant with unexplained fractures. CT bone density measurements determine both the cortical bone density (CBD) and the trabecular bone density (TBD). CT bone density was determined using the OsteoQuant in 14 individuals with OI-type I who ranged in ages from 8 months to 45 years. The control groups consisted of over 1000 normal individuals, mostly adults, and included 7 normal infants who ranged in age from 10 months to 27 months. One of the individuals with OI-type I was a 4-month-old infant with multiple, unexplained fractures who had no other features of OI-type I and whose parents were accused of child abuse. Infants and children with OI-type I had low CBD and low TBD compared with normal controls, whereas adults with OI-type I had low TBD and high CBD when compared with controls. The one infant with multiple unexplained fractures and no other features of OI-type I had a bone density profile suggesting OI-type I with a low TBD and low CBD. Subsequent collagen analysis showed biochemical evidence of OI-type I. Individuals with OI-type I have abnormal CT bone density profiles that evolve over time from a low CBD and low TBD during infancy and childhood to a high CBD and low TBD during adulthood. This may explain the decreased frequency of fractures in individuals with OI-type I in adulthood compared with childhood. Individuals with OI-type I can present with only multiple unexplained fractures and have no other clinical features to strongly suggest the diagnosis. CT bone density measurements can be helpful in these atypical cases of OI-type I and should be considered in the investigation of the infant with unexplained fractures to help distinguish intrinsic bone disease from child abuse.
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7/161. osteogenesis imperfecta. review of the medical and dental literature and report of a case.

    osteogenesis imperfecta is a rare congenital bone disease affecting the mesenchyme and some of its derivatives resulting in three basic clinical entities--fragility of bones, blue sclera, and otosclerosis. The medical and dental literature pertaining to osteogenesis imperfecta is reviewed, and a specific dental case is discussed.
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8/161. Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy.

    Familial hyperphosphatasemia is an uncommon hereditary disorder of membranous bone with concurrent overproduction and overdestruction of bone and bone collagen by osteocytes. This process does not allow normal maturation into compact lamellar bone. Two cases of severely affected children are presented which demonstrate that the condition can be diagnosed in early infancy by abnormalities in the long bones. At this stage the skull may appear normal and the characteristic thickening of the calvarium appears later. The disease is treatable with human thyrocalcitonin; these and previously reported cases have responded favorably.
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9/161. The treatment of mandibular cysts associated with osteogenesis imperfecta.

    A fifteen-year-old boy with osteogenesis imperfecta (OI) and dentinogenesis imperfecta also had a big cyst in the mandible and needed surgical therapy. Six months postoperatively we saw a complete regeneration of the bone-structures. We came to the conclusion that cysts which appear independently from the disease of OI can heal after surgical intervention.
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10/161. osteogenesis imperfecta with extreme bone fragility.

    osteogenesis imperfecta ordinarily leads to an early death. survival to age 30 is unusual. In this case the patient achieved some pleasure in life, was reported to be of normal intellectual capacity, and proved capable of great skill in certain crafts. He truly lived his life and his last years were made possible by skills of his home health care team, the devotion of his mother, and his own determination, humor, defiance, and toughness of character.
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