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March 5, 1997, Vol 277, No. 9 >
ARTICLE | March 5, 1997

Osteogenesis Imperfecta: Title and subTitle BreakRehabilitation and Prospects for Gene Therapy FREE

Joan C. Marini, MD, PhD; Naomi Lynn Gerber, MD
[+] Author Affiliations

Reprints: Joan C. Marini, MD, PhD, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bldg 10, Rm 9s241, Bethesda, MD 20892-1830.

Grand Rounds at the Clinical Center of the National Institutes of Health section editors: John I. Gallin, MD, the Clinical Center of the National Institutes of Health, Bethesda, Md; David S. Cooper, MD, Contributing Editor, JAMA.


JAMA. 1997;277(9):746-750. doi:10.1001/jama.1997.03540330068037
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References

SELECTED CASE  A 6-year-old girl with type IV osteogenesis imperfecta (OI) was seen initially at the National Institutes of Health (NIH) at the age of 3 months. She was the product of an uncomplicated term pregnancy delivered by cesarean section. She weighed 2.4 kg at birth and was noted to have a soft skull. At 3 months of age she was noted to have a swollen right thigh, diagnosed as a femur fracture, and was treated with a hip spica cast for 6 weeks. When the radiograph was taken, an old healed left femur fracture was also seen. The diagnosis of OI was made at that time.On physical examination at the age of 3 months, she could lie prone, support her head, and lift all limbs against gravity. Her knee and ankle joints were lax, and her left femur was bowed 45°. Treatment was to encourage physical activity through

REFERENCES

1 +
Binder H, Hawks L, Graybill G, Gerber NL, Weintrob JC.  Osteogenesis imperfecta: rehabilitation approach with infants and young children . Arch Phys Med Rehabil . 1984;;65:537-541.
2 +
Byers PH.  Osteogenesis imperfecta . In: Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects . 10th ed. New York, NY: John Wiley & Sons Inc; 1993;:317-350.
3 +
Kielty CM, Hopkinson I, Grant ME.  Collagen: the collagen family: structure, assembly, and organization in the extracellular matrix . In: Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects . 3rd ed. New York, NY: John Wiley & Sons Inc; 1993;:103-147.
4 +
Sillence DO, Senn A, Danks DM.  Genetic heterogeneity in osteogenesis imperfecta . J Med Genet . 1979;;16:101-116.
5 +
Marini JC.  Osteogenesis imperfecta: comprehensive management . Adv Pediatr . 1988;;35:391-426.
6 +
Charnas LR, Marini JC.  Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta . Neurology . 1993;;43:2603-2608.
7 +
Byers PH, Wallis GA, Willing MC.  OI: translation of mutation to phenotype . J Med Genet . 1991;;28:433-442.
8 +
Willing, MC, Deschenes SP, Slayton RL, Roberts E.  Premature chain termination is a unifying mechanism for COL1A1 null allele in osteogenesis imperfecta type I cell strains . Am J Hum Genet . 1996;;59:799-809.
9 +
Cohn DH, Starman BJ, Blumberg B, Byers PH.  Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1) . Am J Hum Genet . 1990;;46:591-601.
10 +
Folio MR, Fewell RR. Peabody Developmental Motor Scales . Itasca, Ill: Riverside Press; 1983;.
11 +
Bleck EE.  Nonoperative treatment of osteogenesis imperfecta: orthotic and mobility management . Clin Orthop . 1981;;159:111-122.
12 +
Gerber LH, Binder H, Weintrob J, et al.  Rehabilitation of children and infants with osteogenesis imperfecta: a program for ambulation . Clin Orthop . 1990;;251:254-260.
13 +
Marini JC, Bordenick S, Heavner G, Rose S, Chrousos GP.  Evaluation of growth hormone axis and responsiveness to growth stimulation in short children with osteogenesis imperfecta . Am J Med Genet . 1993;;45:261-264.
14 +
Marini JC, Bordenick S, Heavner G, et al.  The growth hormone and somatomedin axis in short children with osteogenesis imperfecta . J Clin Endocrinol Metab . 1993;;76:251-256.
15 +
Haskins M, Chieffo C, Wang P, Just C, Evans S, Aguirre G.  Bone marrow transplantation in canine mucopolysaccharidosis VI (beta-glucuronidase deficiency) . Am J Hum Genet . 1991;;49:A435.
16 +
Fedde KN, Blair L, Terzic F, et al.  Amelioration of the skeletal disease in hypophosphatasia by bone marrow transplantation using the alkaline phosphatase-knockout mouse model . Am J Hum Genet . 1996;;59:A15.
17 +
Pereira RF, Halford KW, O'Hara MD, et al.  Cultured adherent cells from marrow can serve as long-lasting precursor cells for bone, cartilage, and lung in irradiated mice . Proc Natl Acad Sci USA . 1995;;92:4857-4861.
18 +
Woolf TM, Jennings CGB, Rebagliati M, Melton DA.  The stability, toxicity and effectiveness of unmodified and phosphorothioate antisense oligodeoxynucleotides in Xenopus oocytes and embryos . Nucleic Acids Res . 1990;;18:1763-1769.
19 +
Taylor NR, Kaplan B, Swiderski P, Li H, Rossi JJ.  Chimeric DNA-RNA hammerhead ribozymes have enhanced in vitro catalytic efficiency and increased stability in vivo . Nucleic Acids Res . 1992;;20:4559-4565.
20 +
Wang Q, Marini JC.  Antisense oligodeoxynucleotides selectively suppress expression of the mutant α2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts . J Clin Invest . 1996;;97:448-454.
21 +
Filie JD, Orrison BM, Wang Q, Lewis MB, Marini JC.  A de novo G+1→A mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband . Hum Mutat . 1993;;2:380-388.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

1 +
Binder H, Hawks L, Graybill G, Gerber NL, Weintrob JC.  Osteogenesis imperfecta: rehabilitation approach with infants and young children . Arch Phys Med Rehabil . 1984;;65:537-541.
2 +
Byers PH.  Osteogenesis imperfecta . In: Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects . 10th ed. New York, NY: John Wiley & Sons Inc; 1993;:317-350.
3 +
Kielty CM, Hopkinson I, Grant ME.  Collagen: the collagen family: structure, assembly, and organization in the extracellular matrix . In: Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects . 3rd ed. New York, NY: John Wiley & Sons Inc; 1993;:103-147.
4 +
Sillence DO, Senn A, Danks DM.  Genetic heterogeneity in osteogenesis imperfecta . J Med Genet . 1979;;16:101-116.
5 +
Marini JC.  Osteogenesis imperfecta: comprehensive management . Adv Pediatr . 1988;;35:391-426.
6 +
Charnas LR, Marini JC.  Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta . Neurology . 1993;;43:2603-2608.
7 +
Byers PH, Wallis GA, Willing MC.  OI: translation of mutation to phenotype . J Med Genet . 1991;;28:433-442.
8 +
Willing, MC, Deschenes SP, Slayton RL, Roberts E.  Premature chain termination is a unifying mechanism for COL1A1 null allele in osteogenesis imperfecta type I cell strains . Am J Hum Genet . 1996;;59:799-809.
9 +
Cohn DH, Starman BJ, Blumberg B, Byers PH.  Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1) . Am J Hum Genet . 1990;;46:591-601.
10 +
Folio MR, Fewell RR. Peabody Developmental Motor Scales . Itasca, Ill: Riverside Press; 1983;.
11 +
Bleck EE.  Nonoperative treatment of osteogenesis imperfecta: orthotic and mobility management . Clin Orthop . 1981;;159:111-122.
12 +
Gerber LH, Binder H, Weintrob J, et al.  Rehabilitation of children and infants with osteogenesis imperfecta: a program for ambulation . Clin Orthop . 1990;;251:254-260.
13 +
Marini JC, Bordenick S, Heavner G, Rose S, Chrousos GP.  Evaluation of growth hormone axis and responsiveness to growth stimulation in short children with osteogenesis imperfecta . Am J Med Genet . 1993;;45:261-264.
14 +
Marini JC, Bordenick S, Heavner G, et al.  The growth hormone and somatomedin axis in short children with osteogenesis imperfecta . J Clin Endocrinol Metab . 1993;;76:251-256.
15 +
Haskins M, Chieffo C, Wang P, Just C, Evans S, Aguirre G.  Bone marrow transplantation in canine mucopolysaccharidosis VI (beta-glucuronidase deficiency) . Am J Hum Genet . 1991;;49:A435.
16 +
Fedde KN, Blair L, Terzic F, et al.  Amelioration of the skeletal disease in hypophosphatasia by bone marrow transplantation using the alkaline phosphatase-knockout mouse model . Am J Hum Genet . 1996;;59:A15.
17 +
Pereira RF, Halford KW, O'Hara MD, et al.  Cultured adherent cells from marrow can serve as long-lasting precursor cells for bone, cartilage, and lung in irradiated mice . Proc Natl Acad Sci USA . 1995;;92:4857-4861.
18 +
Woolf TM, Jennings CGB, Rebagliati M, Melton DA.  The stability, toxicity and effectiveness of unmodified and phosphorothioate antisense oligodeoxynucleotides in Xenopus oocytes and embryos . Nucleic Acids Res . 1990;;18:1763-1769.
19 +
Taylor NR, Kaplan B, Swiderski P, Li H, Rossi JJ.  Chimeric DNA-RNA hammerhead ribozymes have enhanced in vitro catalytic efficiency and increased stability in vivo . Nucleic Acids Res . 1992;;20:4559-4565.
20 +
Wang Q, Marini JC.  Antisense oligodeoxynucleotides selectively suppress expression of the mutant α2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts . J Clin Invest . 1996;;97:448-454.
21 +
Filie JD, Orrison BM, Wang Q, Lewis MB, Marini JC.  A de novo G+1→A mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband . Hum Mutat . 1993;;2:380-388.

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