Cases reported "Osteogenesis Imperfecta"

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11/408. prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.

    osteogenesis imperfecta (OI) type I is caused by a reduction of type I collagen resulting from the presence of a non-functional COL1A1 allele (null-allele). Owing to the lack of mutant mRNA, genomic screening of the COL1A1 and COL1A2 genes is required to identify a causal mutation, which is a costly and time consuming endeavour. We have developed an alternative approach for confirmation of a suspected diagnosis of OI type I based on the detection of a COL1A1 null-allele. Here we report the application of this COL1A1 null-allele detection test for prenatal diagnosis in a patient with OI type I in which it was shown that the fetus had inherited the normal COL1A1 allele from his affected mother and would not be affected with OI. ( info)

12/408. Aortic dissection: a rare complication of osteogenesis imperfecta.

    osteogenesis imperfecta (OI) is an inherited connective tissue disorder, a group that includes ehlers-danlos syndrome, Marfan's syndrome and pseudoxanthoma elasticum. OI is a heterogeneous disease of collagen I biosynthesis characterized by variable clinical phenotypes, including skeletal and cardiovascular manifestations. A 65-year-old man with OI who had extensive prior successful cardiac valve surgeries is described. He survived for 18 years after his initial valve surgery, but died of multiorgan failure and sepsis after repair of a spontaneous type A aortic dissection. This is the fourth reported case of aortic dissection secondary to OI and illustrates the extensive cardiovascular pathology associated with OI. Aggressive management of arterial dissection risk factors, such as systemic arterial hypertension, is advocated for patients with OI. ( info)

13/408. osteogenesis imperfecta of the stapes: an histological study.

    Two cases of Van der Hoeve's Syndrome are presented with histological findings consistent with the diagnosis of osteogenesis imperfecta. These findings support the view that otosclerosis can be clearly differentiated histologically from osteogenesis imperfecta. Pre-operative impedance studies are recommended on each patient with osteogenesis imperfecta as a useful diagnostic adjunct to determine whether the conductive component in the hearing loss is secondary to stapedial crural deformity and/or footplate fixation. ( info)

14/408. 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. ( info)

15/408. 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. ( info)

16/408. Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

    Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes. Here we describe the molecular defects responsible for four case of lethal OI. Two glycine substitutions within the COL1A1 gene (G478S, G994D) and two glycine substitutions within the COLIA2 gene (G319V, G697C) were identified. The mutation sites were localized in proalpha2(I) and proalpha2(I)mRNA molecules, respectively, by chemical cleavage of mismatch in hereteroduplex nucleic acids. Subsequent reverse transcription PCR amplification, cloning and sequencing, led to mutation identification. The aminoacid substitutions were due to two G-->A transitions in COL1A1(cases 1,2), to a G-->T transversion in COL1A2 (case 3), and to two contiguous point mutations in COL1A2 (case 4). All five nucleotide changes appeared to be fresh mutations. COLIA1(accession number Z74615) and COL1A2(accession number Z74616) wild type coding sequences (cDNA) were deduced from the EMBL dna sequence database. The mutations described here can also be found in the human type I collagen mutation database at the web site:http://www.le.ac.uk/genetics/collagen. ( info)

17/408. Left ventricular rupture after mitral valve replacement in a patient with osteogenesis imperfecta tarda.

    We describe the case of a patient with osteogenesis imperfecta tarda (Lobstein's syndrome) and mitral valve insufficiency. The course after mitral valve replacement was complicated by rupture of the left ventricular posterior wall, which caused massive bleeding and sudden death. The pathologic findings and the operative problems are discussed. ( info)

18/408. 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. ( info)

19/408. 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. ( info)

20/408. 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. ( info)
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