Osteogenesis imperfecta: Clinical, cephalometric, and biochemical investigations of OI types I, III, and IV

Journal of Craniofacial Genetics and Developmental Biology

Volumn 17, Issue 3, 1997, Pages 121-132

  Jensen, Birgit Leth ^a,c   Lund, Allan Meldgaard ^b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Rigshospitalet   (Denmark)

^c Dept of Pediatric Dentistry ^*  (Denmark)

Author keywords

Basilar impression; Cephalometry; Classification; Collagen I; Craniofacial; Molecular analysis; Morphology

Indexed keywords

COLLAGEN TYPE 1; PROCOLLAGEN;

ADOLESCENT; ADULT; ARTICLE; CEPHALOMETRY; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CRANIOFACIAL DEVELOPMENT; CRANIOFACIAL MORPHOLOGY; DISEASE CLASSIFICATION; FEMALE; FIBROBLAST; HUMAN; HUMAN CELL; ISOTOPE LABELING; JAW MALFORMATION; MAJOR CLINICAL STUDY; MALE; MAXILLA; OSTEOGENESIS IMPERFECTA; PHOTOGRAPHY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; SKULL DEVELOPMENT; SKULL MALFORMATION; X RAY FILM;

ADOLESCENT; ADULT; CEPHALOMETRY; CHILD; COLLAGEN; FACE; FEMALE; HUMANS; MALE; MIDDLE AGED; OSTEOGENESIS IMPERFECTA;

EID: 0030866372     PISSN: 02704145     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (47)

1. BEIGHTON P, SPRANGER J, VERSVELD G: Skeletal complications in osteogenesis imperfecta: A review of 153 South African patients. S Afr Med J 64:565-568, 1983.
2. BJÖRK A: The relationship of the jaws to the cranium. In A. Lundström (ed): "Introduction to Orthodontics." McGraw-Hill, New York, pp. 104-140, 1960.
3. BJöRK A: Variations in the growth pattern of the human mandible: Longitudinal radiographic study by the implant method. J Dent Res 42:400-411, 1963.
4. BROOKS ML, GALL C, WANG A-M, SCHICK R, RUMRAUGH CL: Osteogenesis imperfecta associated with basilar impression and cerebral atrophy: A case report. Comput Med Imag Graph 13:363-367, 1989.
5. BYERS PH: Osteogenesis imperfecta. In Royce PM, Steinmann B (eds): "Connective Tissue and Its Heritable Disorders, Molecular. Genetic, and Medical Aspects." New York: Wiley-Liss, pp. 317-341, 1993.
6. BYERS PH, WALLIS GA, WILLING MC: Osteogenesis imperfecta: Translation of mutation to phenotype. J Med Genet 28:433- 442, 1991.
7. CHAMBERLAIN WE: Basilar impression (platybasia): A bizarre developmental anomaly of the occipital bone and upper cervical spine with striking and misleading neurologic manifestations. Yale J Biol Med 11:487, 1939.
8. CREMIN B, GOODMAN H, SPRANGER J, BEIGHTON P: Wormian bones in osteogenesis imperfecta and other disorders. Skelet Radiol 8:35-38, 1982.
9. FRANK E, BERGER T, TEW JM, JR: Basilar impression and platybasia in osteogenesis imperfecta tarda. Surg Neurol 17:116-119, 1982.
10. GAGE JP, FRANCIS MJO, WHITAKER GE, SMITH R: Dentine is biochemically abnormal in osteogenesis imperfecta. Clin Sci 70:339-346, 1986.
11. GAGE JP, SYMONS AL, ROMAMIUK K, DALEY TJ: Hereditary opalescent dentine: Variation in expression. ASDC J Dent Child 58:134-139, 1991.
12. HARKEY HL, CROCKARD A, STEVENS JM, SMITH R, RANSFORD AO: The operative management of basilar impression in osteogenesis imperfecta. Neurosurg 27:782-786, 1990.
13. HELLER A. KREIBORG S, DAHL E, JENSEN BL: X-ray: Cephalometric Analysis System for the Lateral, Frontal, and Axial Projections. "The Fifth European Craniofacial Congress." Copenhagen 1995 (abstract).
14. HORAN F. BEIGHTON P. Osteogenesis imperfecta. In Horan F, Beighton P (eds): "Orthopaedic Problems in Inherited Skeletal Disorders." Berlin, Heidelberg, New York: Springer-Verlag, pp. 48-55, 1982.
15. INGERSLEV CH, SOLOW B: Sex differences in craniofacial morphology. Acta Odontol Scand 33:85-94, 1975.
16. ISSHIKI Y: Morphological studies on osteogenesis imperfecta. especially in teeth, dental arch and facial cranium. Bull Tokyo Dent Coll 7:31-49, 1966.
17. JENSEN BL, KREIBORG S: Development of the skull in infants with cleidocranial dysplasia. J Craniofac Genet Dev Biol 13:89-97, 1993.
18. KEATS TE: Diffuse thickening of calvarium in osteogenesis imperfecta. Radiology 86:97-99, 1966.
19. KREIBORG S: "Crouzon Syndrome: A Clinical and Roentgencephalometric Study." (Doctoral thesis) Scand J Plast Reconstr Surg (Suppl 18), 1981.
20. KURIMOTO M, OHARA S, TAKAKI A: Basilar impression in osteogenesis imperfecta tarda: Case report. J Neurosurg 74:136- 138, 1991.
21. LAEMMLI UK: Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680-685. 1970.
22. LEVIN LS: The dentition in osteogenesis imperfecta syndromes: Clin Orthop Relat Res 159:64-74, 1981.
23. LEVIN LS, YOUNG RJ, PYERITZ RE: Osteogenesis imperfecta type I with unusual dental abnormalities. Am J Med Genet 31:921- 932, 1988.
24. LUDER HU, VAN WAES H, RAGHUNATH M, STEINMANN B: Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the α2(1) collagen gene demonstrate different expression on the genetic defect in bone and teeth. J Craniofac Genet Dev Biol 1996;16:156-163.
25. LUKINMAA P-L. Developmental dental aberrations in osteogenesis imperfecta: A clinical, radiographic, histological and immunohistochemical study. Proc Fin Dent Soc 84:1- 97, 1988.
26. LUKINMAA P-L, RANTA H, RANTA K, KAITILA I: Dental findings in osteogenesis imperfecta. I. Occurrence and expression of type I dentinogenesis inperfecta. J Craniofac Genet Dev Biol 7:115-125, 1987a.
27. LUKINMAA P-L, RANTA H, RANTA K, KAITILA I. HIETANEN J: Dental findings in osteogenesis imperfecta. II. Dysplastic and other developmental defects. J Craniofac Genet Dev Biol 7:127-135, 1987b.
28. LUND AM, SCHWARTZ M, RAGHUNATH M, STEINMANN B, SKOVBY F: Gly802Asp substitution in the proα2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. Eur J Hum Genet 4:39-45, 1996a.
29. LUND AM, SKOVBY F, SCHWARTZ M: Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV. Hum Genet 97:287-290, 1996b.
30. LUND AM, SKOVBY F, SCHWARTZ M: Serine for glycine substititions in the C-terminal third of the α1(I) chain of collagen I in five patients with non-lethal osteogenesis imperfecta. Hum Mutat, 1996e (in press).
31. MCGREGOR M: The significance of certain measurements of the skull in the diagnosis of basilar impression. Br J Radiol 21:171-181, 1948.
32. PATERSON CR, MCALLISON SJ, SHAW JW: Clinical and radiological features of osteogenesis imperfecta type IVA. Acta Pediatr Scand 76:548-552, 1987.
33. Pozo JL, CROCKARD HA, RANSFORD AO: Basilar impression in osteogenesis imperfecta: A report of three cases in one family. J Bone Joint Surg 66:233-238, 1984.
34. RUSH PJ, BERBRAYER D, REILLY BJ: Basilar impression and osteogenesis imperfecta in a three-year-old girl: CT and MRI. Pediatr Radiol 19:142-143, 1989.
35. SCHWARTZ S, TSIPOUAS P: Oral findings in osteogenesis imperfecta. Oral Surg Oral Med Oral Pathol 57:161-167, 1984.
36. SHOENFEILD Y, FRIED A, EHRENFELD NE: Osteogenesis imperfecta: Review of the literature with presentation of 29 cases. Am J Dis Child 129:679-687, 1975.
37. SILLENCE DO: Craniocervical abnormalities in osteogenesis imperfecta: Genetic and molecular correlation. Pediatr Radiol 24:427-430, 1994.
38. SILLENCE DO, BARLOW KK, COLE WG, DIETRICH S, GARBER AP, RIMOIN DL: Osteogenesis imperfecta type III: Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 23:821-832, 1986.
39. SILLENCE DO, RIMOIN DL, DANKS DM: Clinical variability in osteogenesis imperfecta-variability expressivity or genetic heterogeneity. Birth Defects 15:113-129. 1979a.
40. SILLENCE DO, SENN A, DANKS DM: Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101-116, 1979b.
41. SOLOW B: The pattern of craniofacial associations. A morphological and methodological correlation and factor analysis study on young male adults. Acta Odontol Scand 24:46, 1966.
42. SOLOW B, TALLGREN A: Natural head position in standing subjects. Acta Odontol Scan 29:591-607, 1971.
43. SOLOW B. TALLGREN A: Head posture and craniofacial morphology. Am J Phys Anthropol 44:417-436, 1976.
44. STEINMANN B, RAO VH, VOGEL A, BRUCKNER P, GITZELMANN R, BYERS PH: Cysteine in the triple-helical domain of one allelic product of the α1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem 259:11129- 11138, 1984.
45. STENVIK A, LARHEIM TA, STORHAUG K: Incisor and jaw relationship in 27 persons with osteogenesis imperfecta. Scand J Dent Res 93:56-60, 1985.
46. THØRS O: Compression of facial sutures by external pressure (Milwaukee-brace) demonstrated by the implant method. Trans Eur Orthod Soc, 1-12, 1964.
47. VETTER U, PONTZ B, ZAUNER E, BRENNER RE, SPRANGER J: Osteogenesis imperfecta: A clinical study of the first ten years of life. Calcif Tissue Int 50:36-41, 1992.