Cases reported "Osteogenesis Imperfecta"

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1/14. 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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2/14. A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II.

    The osteogenesis imperfecta syndromes constitute a group of heterogeneous, heritable skeletal dysplasias. Of the 4 types, type II is the most severe, with an incidence of 1 per 55,000. It is characterized by malformed bones secondary to abnormal collagen type i synthesis. Affected fetuses are divided into 3 groups: A, B, and C. All groups have long bones described as "wrinkled" or "crumpled" secondary to repeated fractures. Many bones also show evidence of demineralization, which is especially evident in the bones of the face and calvaria. In groups A and C, the chest is generally small, with thickened and shortened ribs, and each rib has characteristic "beading" patterns secondary to repeated fracturing. Sonography has traditionally been successful in the diagnosis of osteogenesis imperfecta at an early gestational age. chondrodysplasia punctata describes a heterogeneous group of skeletal disorders characterized by abnormal mineralization of bones during gestation. There are many different causes of it, but some of the specific subtypes include rhizomelic, X-linked dominant (also known as Conradi-Hunermann syndrome), X-linked recessive, and tibia-metacarpal. We report a case of severe X-linked dominant chondrodysplasia punctata, which sonographically had common features with osteogenesis imperfecta type II.
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3/14. osteogenesis imperfecta presenting as simultaneous bilateral tibial tubercle avulsion fractures in a child: a case report.

    This is a case report of a unique presentation of a mild form of osteogenesis imperfecta (OI) (type IA) in a 9-year-old African-American boy who presented with simultaneous bilateral tibial tubercle avulsion fractures. The boy presented to the authors' emergency room complaining of acute bilateral knee pain. He could not perform a straight leg raise. Other than his orthopaedic examination, significant findings included blue sclera and irregular teeth. Radiographs and magnetic resonance imaging (MRI) confirmed bilateral tibia tubercle avulsion fractures. The patient underwent open reduction and internal fixation of his fractures, and postoperative genetic testing confirmed that the patient was heterozygous for OI. The authors present the fourth reported case of simultaneous bilateral tibial tubercle fractures. To their knowledge this is the first case of OI presenting with these fractures, the youngest reported case, and the first case with MRI documentation.
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4/14. Arthroscopic-assisted revision of telescopic rods in osteogenesis imperfecta.

    Bailey-Dubow extensible nails are intramedullary stabilization devices designed to prevent deformities and recurrent long bone fractures in patients with osteogenesis imperfecta. The rods consist of a hollow outer sleeve and a solid inner obturator, allowing for telescoping of the rods and expansion of the device with longitudinal growth of the bone. Migration of the nail into the joint is a known complication of this procedure, which can lead to pain and loss of motion. This is a case report of the use of an arthroscopic approach to manipulate femoral and tibial Bailey-Dubow rods that migrated into the knee joint.
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5/14. Percutaneous nailing in the management of osteogenesis imperfecta.

    Marked deformities of the skeleton may develop in the severe form of osteogenesis imperfecta. Internal fixation can be effective in the treatment and prevention of fractures and deformities. Eight years ago, axial correction of deformities of the femora and tibiae by manual osteoclasis was carried out in a 7 year old girl in whom osteogenesis imperfecta had produced severe bowing of the long bones of the legs. Internal metal splints were introduced percutaneously to lie partially in, and partially alongside, the bone, to obtain fixation in the correct position. This treatment resulted in the prevention of refracture of the legs, while correction was maintained.
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6/14. Is APD a promising drug in the treatment of severe osteogenesis imperfecta?

    The efficacy of (3-amino-1-hydroxypropylidene)-1,1-biphosphonate (APD) is reported in a severe case of osteogenesis imperfecta (OI). An increased density at the metaphysis level is demonstrated on wrist radiograph. Similar findings have been observed in two other children with OI at various metaphyseal levels (e.g., tibia, femur). To our knowledge, this is the first time the effect of APD in children with severe OI has been reported.
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7/14. New outlooks in the treatment of osteogenesis imperfecta. An unusual case successfully treated by the Ilizarov method.

    The authors describe a rare case of osteogenesis imperfecta in a patient aged 29 years affected with equal deformities of the lower extremities. In the right tibia a pseudarthrosis due to a fatigue fracture had occurred at the apex of the deformity. Treatment by the traditional methods posed serious problems, both technical and from the point of view of repair of the pseudarthrosis and the trophic changes. These problems were solved by using the Ilizarov compression-extension apparatus.
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8/14. Closed intramedullary rodding for osteogenesis imperfecta.

    Three cases of severe osteogenesis imperfecta are reported. Each was treated by closed intramedullary rodding, combined with osteoclasis to correct deformity. Operation was performed within a few months of birth. Both tibiae and both femora were stabilised in one operation, using x-ray image intensification to monitor placement of the rods. The technique used to insert the rods is described. The procedure appeared to be entirely satisfactory in reducing the incidence of fractures and it allowed the affected infants to be handled much more easily.
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9/14. Further clinical experience with the extensible nail.

    The extensible nail for treatment of children with brittle bones offers distinct advantages over the conventional rod. It appears to elongate with growth and thus obviates periodic replacement of the rod as the child grows. Complications have been few in this and other series. Recent modifications of the technique for the femur and tibia, and various changes in the original design, constitute significant improvements in the intramedullary nail method.
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10/14. Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.

    We have examined the type I collagen protein, rna, and cDNA of 2 children with moderately severe (type IV) osteogenesis imperfecta (OI). They have in common a non-lethal form of OI with ambulatory potential, overmodification of type I collagen protein, and a substitution of serine for glycine in the collagen chain produced by one alpha 1(I) allele. The first child (Marini et al.: J Biol Chem 264:11893-11900, 1989) is now 7 years old, with the height of a 3-year-old. Her course includes significant remodeling of lower long bones and 4 femur fractures. She walks independently. A mishmatch was detected in her alpha 1(I) mRNA using rna/rna hybrids; it was demonstrated to be due to a G-->A point mutation in one allele of alpha 1(I), resulting in the substitution of serine for glycine 832. The second child is now 6 1/2 years old, with the height of 1 1/2-year-old. Her history includes significant bowing of femurs and tibias, 6 femur fractures, S-curve scoliosis, compression of all lumbar vertebrae, and limited short-distance walking with braces. Her alpha 1(I) mRNA has also been studied by rna hybrid analysis; there is a single G-->A change in one alpha 1(I) allele causing the substitution of serine for gly 352. Both children have moderately severe OI. However, the serine substitution at gly 352 is associated with a more severe phenotype then is the serine substitution at gly 832. Compared to substitutions described in other cases of OI, the serine 352 is located in the middle of a cluster of cysteine substitutions associated with non-lethal OI.(ABSTRACT TRUNCATED AT 250 WORDS)
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