Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of a mutation in TGFB1, and review

American Journal of Medical Genetics

Volumn 129 A, Issue 3, 2004, Pages 235-247

  Wallace, Stephanie E ^a   Lachman, Ralph S ^a,b   Mekikian, Pertchoui B ^a   Bui, Kathy K ^a   Wilcox, William R ^a,b  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Camurati Engelmann disease; Craniotubular dysplasia; Hyperostosis; Progressive diaphyseal dysplasia; Transforming growth factor 1

Indexed keywords

CORTICOSTEROID; PREDNISONE; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; AUTOSOMAL DOMINANT INHERITANCE; BONE RADIOGRAPHY; CAMURATI ENGELMANN SYNDROME; CHROMOSOME 19Q; CLINICAL ARTICLE; CORTICOSTEROID THERAPY; CRANIAL NERVE; DIAPHYSIS DYSPLASIA; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPEROSTOSIS; INTRACRANIAL PRESSURE; INTRON; LEG PAIN; LONG BONE; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; NERVE COMPRESSION; NUCLEOTIDE REPEAT; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SCLEROSIS; SIDE EFFECT; SKULL; SYMPTOMATOLOGY; SYSTEMATIC REVIEW;

ADRENAL CORTEX HORMONES; ADULT; BASE SEQUENCE; BONES OF UPPER EXTREMITY; CAMURATI-ENGELMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENE COMPONENTS; HUMANS; INFANT, NEWBORN; LEG BONES; LINKAGE (GENETICS); MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SKULL; TANDEM REPEAT SEQUENCES; TRANSFORMING GROWTH FACTOR BETA;

EID: 4444342943     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30148     Document Type: Review

References (157)

1. Aggarwal P, Wali JP, Sharma SK. 1990. Progressive diaphyseal dysplasia: Case report and literature review. Orthopedics 13:901-904.
2. Allen DT, Saunders AM, Northway WH Jr, Williams GF, Schafer IA. 1970. Corticosteroids in the treatment of Engelmann's disease: Progressive diaphyseal dysplasia. Pediatrics 46:523-531.
3. Anderson FG. 1953. Engelmann's disease. Br J Radiol 26:603-605.
4. Applegate LJ, Applegate GR, Kemp SS. 1991. MR of multiple cranial neuropathies in a patient with Camurati-Engelmann disease: Case report. AJNR Am J Neuroradiol 12:557-559.
5. Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. 2002. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 39:91-97.
6. Battaglia L, Venturi R. 1960. La poliosteopatia addensante simmetrica ereditaria (malattia di Camurati-Engelmann). Chir Organi Mov 49: 179-196.
7. Beck LS, Ammann AJ, Aufdemorte TB, Deguzman L, Xu Y, Lee WP, McFatridge LA, Chen TL. 1991. In vivo induction of bone by recombinant human transforming growth factor beta 1. J Bone Miner Res 6:961-968.
8. Bedogni C. 1962. L'origine vascolare della malattia di Camurati-Engelmann (poliosteopatia addensante simmetrica famigliare). Chir Organi Mov 51:156-166.
9. Beighton P, Durr L, Hamersma H. 1976. The clinical features of sclerosteosis: A review of the manifestations in twenty-five affected individuals. Ann Intern Med 84:393-397.
10. Bingold AC. 1950. Engelmann's disease osteopathia hyperostotica (sclerotisans) multiplex infantilis; progressive diaphyseal dysplasia. Br J Surg 37:266-274.
11. Bonewald LF, Wakefield L, Oreffo RO, Escobedo A, Twardzik DR, Mundy GR. 1991. Latent forms of transforming growth factor-beta (TGF beta) derived from bone cultures: Identification of a naturally occurring 100-kDa complex with similarity to recombinant latent TGF beta. Mol Endocrinol 5:741-751.
12. Bourantas K, Tsiara S, Drosos AA. 1995. Successful treatment with corticosteroid in a patient with progressive diaphyseal dysplasia. Clin Rheumatol 14:485-486.
13. Braham RL. 1969. Multiple congenital anomalies with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Oral Surg 27:20-26.
14. Brat HG, Hamoir X, Matthijs P, Lambin P, Van Campenhoudt M. 1999. Camurati-Engelmann disease: A late and sporadic case with metaphyseal involvement. Eur Radiol 9:159-162.
15. Brodrick JD. 1977. Luxation of the globe in Engelmann's disease. Am J Ophthalmol 83:870-873.
16. Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu YH, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan JT. 2001. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet 68:577-589.
17. Bye AME, Hodson E, Kewley G, Kozlowski K. 1988. Progressive diaphyseal dysplasia and a low muscle carnitine. Pediatr Radiol 18:340.
18. Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. 2001. Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. Hum Genet 109:653-658.
19. Camurati M. 1922. Di un raro caso di osteite simmetrica ereditaria degli arti inferiori. Chir Organi Mov 6:662-665.
20. Chipps JE, Penner RS, Travis LO. 1954. Mandibular involvement in osteopathia hyperostotica sclerotisans multiplex infantilis (Engelmann's disease). Oral Surg 7:1306-1310.
21. Clawson DK, Loop JW. 1964. Progressive diaphyseal dysplasia (Engelmann's disease). J Bone Joint Surg 46A:143-150.
22. Clybouw C, Desmyttere S, Bonduelle M, Piepsz A. 1994. Camurati-Engelmann disease: Contribution of bone scintigraphy to genetic counseling. Genet Couns 5:195-198.
23. Cockayne EA. 1920. Case for diagnosis. Proc R Soc Med 13:132-136.
24. Cohan HJ, Dobon JF, Abeya O, Gutierrez T, Slaski F. 1962. Osteopatia de Camurati-Engelmann. Prensa Med Argent 49:1614-1621.
25. Cohen J, States JD. 1956. Progressive diaphyseal dysplasia. Lab Invest 5:492-508.
26. Cozzolino A. 1959. Ancora sull'osteopatia di Camurati-Engelmann. Arch Ortop (Milano) 72:1422-1427.
27. Crisp AJ, Brenton DP. 1982. Engelmann's disease of bone-A systemic disorder? Ann Rheum Dis 41:183-188.
28. Crisp AJ, Brenton DP, Shaw DG. 1982. Case report 202. Skeletal Radiol 8:239-240.
29. D'Addabbo A, Macarini L, Rubini G, Rubini D, Salzillo F, Lauriero F. 1993. Correlation between bone imaging and the clinical picture in two unsuspected cases of progressive diaphyseal dysplasia (Engelmann's disease). Clin Nucl Med 18:324-328.
30. Dallas SL, Park-Snyder S, Miyazono K, Twardzik D, Mundy GR, Bonewald LF. 1994. Characterization and autoregulation of latent transforming growth factor beta (TGF beta) complexes in osteoblast-like cell lines. Production of a latent complex lacking the latent TGF beta-binding protein. J Biol Chem 269:6815-6821.
31. de la Barreda P, Ortega R, Torres JA, Ferrar M. 1960. Un caso familiar de la enfermedad de Camurati-Englemann. Rev Clin Esp 79:196-201.
32. De Vits A, Keymeulen B, Bossuyt A, Somers G, Verbruggen LA. 1994. Progressive diaphyseal dysplasia (Camurati-Engelmann's disease) improvement of clinical signs and of bone scintigraphy during pregnancy. Clin Nucl Med 19:104-107.
33. Dell'Acqua GB, Ruberti A, Piffanelli A. 1963. La malattia di Camurati-Engelmann-disease. Minerva Med 54:1589-1603.
34. Demas PN, Sotereanos GC. 1989. Facial-skeletal manifestations of Engelmann's disease. Oral Surg Oral Med Oral Pathol 68:686-690.
35. Dharmadasa K, Mendis BLJ, Karunanayake R, de Silva SP. 1981. Engelmann-Camurati disease. Ceylon Med J 26:178-179.
36. Dubois CM, Laprise MH, Blanchette F, Gentry LE, Leduc R. 1995. Processing of transforming growth factor beta 1 precursor by human furin convertase. J Biol Chem 270:10618-10624.
37. Dumazer R, Porot F, Bernard P. 1963. Maladie d'Engelmann premier cäs Nord-Africain. J Radiol Electrol 44:314-318.
38. Engelmann G. 1929. Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis. Fortschr Geb Roentgenstr Nuklearmed 39:1101-1106.
39. Fairbanks T. 1951. An atlas of general affections of the skeleton. Edinburgh: Livingstone. pp 184-187.
40. Fallon MD, Whyte MP, Murphy WA. 1980. Progressive diaphyseal dysplasia (Engelmann's disease) report of a sporadic case of the mild form. J Bone Joint Surg Am 62A:465-472.
41. Farreras Valenti P, Vilaseca JM, De Caralt M. 1954. Osteosclerosis diafisaria multiple hereditaria tipo Camurati-Engelmann con sindrome de leontiasis osea. Rev Esp Rheum 5:354-362.
42. Fritsch H. 1932. Ein Fall von generalisierter osteosklerose. Wien Arch finn Med 23:247-256.
43. Furia JP, Schwartz HS. 1990. Hereditary multiple diaphyseal sclerosis: A tumor simulator. Orthopedics 13:1267-1274.
44. Gelli GP, Arioni G. 1974. Osteopatia iperostotica sclerotizzante multipla di Camurati-Engelmann. Minerva Pediatr 26:772-778.
45. Gentry LE, Lioubin MN, Purchio AF, Marquardt H. 1988. Molecular events in the processing of recombinant type 1 pre-pro-transforming growth factor beta to the mature polypeptide. Mol Cell Biol 8:4162-4168.
46. Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomita H. 2000. Genetic mapping of the Camurati-Engelmann locus to chromosome 19q13.1-q13.3. Am J Hum Genet 66:143-147.
47. Ghosal SP, Mukherjee AK, Mukherjee D, Ghosh AK. 1988. Diaphyseal dysplasia associated with anemia. J Pediatr 113:49-57.
48. Gillespie JB, Mussey RD. 1951. Progressive diaphyseal dysplasia (Engelmann's disease). J Pediatr 38:55-59.
49. Girdany BR. 1959. Engelmann's disease (progressive diaphyseal dysplasia) - A nonprogressive familial form of muscular dystrophy with characteristic bone changes. Clin Orthop 14:102-109.
50. Goerke H. 1960. Uber eine weitere Familie mit Camurati-Engelmannscher Erkrankung (CEE). Fortschr Roentgenstr 92:106-109.
51. Gonzalez Espinosa C, Perez Albelo T, Cerrudo Hernandez RC, Hernandez Gonzalez JR, Fernandez J, Toledo Trujillo F. 1991. Displasia diafisaria progresiva con afectación ósea inusual (enfermedad de Camurati-Engelmann). An Esp Pediatr 34:71-73.
52. Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, Carter ND, Spector TD. 1999. Genetic control of the circulating concentration of transforming growth factor type B1. Hum Mol Genet 8:93-97.
53. Grey AC, Wallace R, Crone M. 1996. Engelmann's disease: A 45-year follow-up. J Bone Joint Surg Br 78B:488-491.
54. Griffiths DL. 1956. Engelmann's disease. J Bone Joint Surg 38B:312-326.
55. Gulati PD, Bhardwaj OP, Vyas PB. 1967. Case of Engelmann's disease. BMJ 3:217.
56. Gulledge WH, White JW. 1951. Engelmann's disease (progressive diaphyseal hyperostosis) report of a case. J Bone Joint Surg 33A:793-797.
57. Gvozdanovic V. 1950. Ein neuer Fall von Engelmannscher Krankheit. Beitrag zur Kenntnis der kongenitalen Osteodystrophien. Fortschr Geb Roentgenstr 73:86-89.
58. Hanson W, Parnes LS. 1995. Vestibular nerve compression in Camurati-Engelmann disease. Ann Otol Rhinol Laryngol 104:823-825.
59. Hecht JT, Blanton SH, Broussard S, Scott A, Rhoades Hall C, Milunsky JM. 2001. Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) syndrome. Clin Genet 59:198-200.
60. Hellier WPL, Brookes GB. 1996. Vestibular nerve dysfunction and decompression in Engelmann's disease. J Laryngol Otol 110:462-465.
61. Hernández MV, Peris P, Guañabens N, Alvarez L, Monegal A, Pons F, Ponce A, Muñoz-Gómez J. 1997. Biochemical markers of bone turnover in Camurati-Engelmann disease: A report on four cases in one family. Calcif Tissue Int 61:48-51.
62. Heymans O, Gebhart M, Alexiou J, Sokolow Y. 1998. Camurati-Engelmann disease. Effects of corticosteroids. Acta Clin Belg 53:189-192.
63. Higashi K, Matsuki C. 1996. Hearing impairment in Engelmann disease. Am J Otol 17:26-29.
64. Hinke V, Seck T, Clanget C, Scheidt-Nave C, Ziegler R, Pfeilschifter J. 2001. Association of transforming growth factor-B1 (TGFB1) T29C gene polymorphism with bone mineral density (BMD), changes in BMD and serum concentrations of TGF-B1 in a population-based sample of postmenopausal German women. Calcif Tissue Int 69: 315-320.
65. Hundley JD, Wilson FC. 1973. Progessive diaphyseal dysplasia review of the literature and report of seven cases in one family. J Bone Joint Surg Am 55A:461-474.
66. Huygen PLM, Cremers CWRJ, Verhagen WIM, Joosten FBM. 1996. Camurati-Engelmann disease presenting as 'juvenile otosclerosis'. Int J Pediatr Otorhinolaryngol 37:129-141.
67. Ignotz RA, Massague J. 1989. Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix. J Biol Chem 264:389-392.
68. Jackson WPU, Hanelin J, Albright F. 1954. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. Arch Intern Med 94:902-910.
69. Jacobson HG. 1985. Dense bone-Too much bone: Radiological considerations and differential diagnosis. Skeletal Radiol 13:1-20.
70. Jammes AR, Serny R, Prouzet J, Duclos G. 1953. Maladie d'Engelmann: Ostéopathie hyperostosante et sclérosante infantile multiple. Rev Rhum 20:406-414.
71. Jammes A, Prouzet J, Serny R, Duclos G. 1956. La maladie d'Engelmann. Presse Med 64:1759-1761.
72. Janssens K, Gershoni-Baruch R, Guanabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W. 2000. Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. Nat Genet 26:273-275.
73. Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W. 2003. Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem 278:7718-7724.
74. Kanzaki T, Olofsson A, Moren A, Wernstedt C, Hellman U, Miyazono K, Welsh CL, Heldin CH. 1990. TGFB1 binding protein: A component of the large latent complex of TGFB1 with multiple repeat sequences. Cell 61:1051-1061.
75. Keen RW, Snieder H, Molloy H, Daniels J, Chiano M, Gibson F, Fairbairn L, Smith P, MacGregor AJ, Gewert D, Spector TD. 2001. Evidence of association and linkage disequilibrium between a novel polymorphism in the transforming growth factor B1 gene and hip bone mineral density: A study of female twins. Rheumatology (Oxford) 40:48-54.
76. Kenny FM, Linarelli L. 1966. Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son. Am J Dis Child 111:201-207.
77. Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. 2000. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet 26:19-20.
78. Kormas N, Diamond T, Shnier R. 1998. Camurati-Engelmann disease: Two case reports describing metadiaphyseal dysplasia associated with cerebellar ataxia. J Bone Miner Res 13:1203-1207.
79. Kumar B, Murphy WA, Whyte MP. 1981. Progressive diaphyseal dysplasia (Engelmann disease): Scintigraphic-radiographic-clinical correlations. Radiology 140:87-92.
80. Langdahl BL, Knudsen JY, Jensen HK, Gregersen N, Eriksen EF. 1997. A sequence variation: 713-8delC in the transforming growth factor-beta 1 gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased bone turnover in both osteoporotic and normal women. Bone 20:289-294.
81. Lauterberg W. 1931. Über zwei fälle von familiärer generalisierter osteosklerose. Deutsche Ztschr f Chir 230:308-315.
82. Lavine LS, Koven MT. 1952. Engelmann's disease (progressive diaphyseal dysplasia). J Pediatr 40:235-239.
83. Lazzarone C, Cartesegna M, Crova M, Calorio D. 1983. Progressive diaphyseal dysplasia: Camurati-Engelmann's disease. Ital J Orthop Traumatol 9:109-114.
84. Lelek I. 1961. Camurati-Engelmannsche Erkrankung. Fortsch Rontgenstr 94:702-712.
85. Lennon EA, Schechter MM, Hornabrook RW. 1961. Engelmann's disease report of a case with a review of the literature. J Bone Joint Surg 43B:273-284.
86. Lenz WD, Majewski F. 1974. A generalized disorders of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine, and craniodiaphyseal hypostosis. Birth Defects Orig Artic Ser 10(12):133-136.
87. Lima LDC, Rocha M. 1952. Doença de Engelmann. Rev Bras Cir 24:281-294.
88. Lindstrom JA. 1974. Diaphyseal dysplasia (Engelmann) treated with corticosteroids. Birth Defects 10:504-507.
89. Low LCK, Stephenson JBP, Stuart-Smith DA. 1985. Progressive diaphyseal dysplasia mimicking childhood myopathy: Clinical and biochemical response to prednisolone. Aust Paediatr J 21:193-196.
90. Lundy MM, Billingsley JL, Redwine MD, Turnbull GL, Brown TJ. 1982. Scintigraphic findings in progressive diaphyseal dysplasia. J Nucl Med 23:324-325.
91. Macpherson RI. 1974. Craniodiaphyseal dysplasia, a disease or group of diseases? J Can Assoc Radiol 25:22-33.
92. Magnant JS, Campourcy A, Bouville J. 1963. Sur un cas de maladie d'Engelman. Mem Acad Chir 89:47-54.
93. Masse G, Parenti G. 1966. Considerazioni sulla osteopatia addensante simmetrica ereditaria di Camurati-Engelmann. Arch Sci Med 122:92-104.
94. McGowan NW, MacPherson H, Janssens K, Van Hul W, Frith JC, Fraser WD, Ralston SH, Helfrich MH. 2003. A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. J Clin Endocrinol Metab 88: 3321-3326.
95. Michaelis LS. 1949. Engelmann's disease. Proc R Soc Med 42:271-273.
96. Mikity VG, Jacobson G. 1958. Progressive diaphyseal dysplasia (Engelmann's disease) report of a case with a 22 year follow-up. J Bone Joint Surg 40A:206-210.
97. Mineta Y. 1983. Camurati-Engelmann's disease presenting with trigeminal neuropathy. Clin Neurol 23:700-705.
98. Minford AMB, Hardy GJ, Forsythe WI, Fitton JM, Rowe VL. 1981. Engelmann's disease and the effect of corticosteroids a case report. J Bone Joint Surg Br 63B:597-600.
99. Mishra GK, Mishra M, Vernekar J, Tehrai M, Patel BR. 1987. Progressive diaphyseal dysplasia-Engelmann's disease. Indian Pediatr 24:1052-1054.
100. Miyamoto RT, House WF, Brackmann DE. 1980. Neurotologic manifestations of the osteopetroses. Arch Otolaryngol 106:210-214.
101. Miyazono K, Thyberg J, Heldin CH. 1992. Retention of the transforming growth factor-beta 1 precursor in the Golgi complex in a latent endoglycosidase H-sensitive form. J Biol Chem 267:5668-5675.
102. Morse PH, Walsh FB, McCormick JR. 1969. Ocular findings in hereditary diaphyseal dsyplasia. Am J Opthalmol 68:100-104.
103. Mottram ME, Hill HA. 1965. Diaphyseal dysplasia report of a case. Am J Roentgenol 95:162-167.
104. Moudgil A, Agarwal RK, Pati H, Bagga A, Saraya AK. 1985. Camurati-Engelmann disease with recurrent bone marrow hypoplasia. Indian J Pediatr 52:201-204.
105. Naveh Y, Kaftori JK, Alon U, Ben-David J, Berant M. 1984. Progressive diaphyseal dysplasia: Genetics and clinical and radiologic manifestations. Pediatrics 74:399-405.
106. Naveh Y, Alon U, Kaftori JK, Berant M. 1985a. Progressive diaphyseal dysplasia: Evaluation of corticosteroid therapy. Pediatrics 75:321-323.
107. Naveh Y, Ludatshcer R, Alon U, Sharf B. 1985b. Muscle involvement in progressive diaphyseal dysplasia. Pediatrics 76:944-949.
108. Nelson M, Scott CI. 1969. Engelmann's disease (a form of craniodiaphyseal dysplasia). Birth Defects 5:301-304.
109. Neuhauser EBD, Schwachman H, Wittenborg M, Cohen J. 1948. Progressive diaphyseal dysplasia. Radiology 51:11-22.
110. Neuman A, Trunk G. 1970. Late roentgen sequelae of Engelmann's disease. Int Surg 53:28-32.
111. Noda M, Camilliere JJ. 1989. In vivo stimulation of bone formation by transforming growth factor-beta. Endocrinology 124:2991-2994.
112. Ortolani M, Castagnari G. 1953. L'ostopatia di Camurati-Engelmann. Arch Chir Organi Mov 3:146-165.
113. Panja S, Chatterjee S, Basak M, Chatterjee R. 1984. Progressive diaphyseal dysplasia (Camurati-Engelmann's disease). Indian Pediatr 21:653-655.
114. Patz IM, Van Heerden HJJ. 1960. Engelmann's diseae: Case report and brief review. S Afr Med J 34:116-119.
115. Paul LW. 1953. Hereditary multiple diaphyseal sclerosis (ribbing). Radiology 60:412-416.
116. Perassi F. 1954. La malattia di Camurati-Engelmann iperostosi sclerotica diafisaria simmetrica ereditaria. Radiol Med 40:147-159.
117. Raffaelli P, Ronzini MF. 1988. Camurati-Engelmann's disease a case report. Ital J Orthop and Traumatol 14:267-271.
118. Ramon Y, Buchner A. 1966. Camurati-Engelmann's disease affecting the jaws. Oral Surg 22:592-599.
119. Ribbing S. 1949. Hereditary, multiple, diaphyseal sclerosis. Acta Radiol 31:522-536.
120. Roth J. 1957. Hyperostosis generalisata, Camurati-Engelmann type. Harefuah 52:229-232.
121. Royer P, Vermeil G, Apostolides P, Engelmann F. 1967. Maladie d'Engelmann resultant du traitement par la prednisone. Arch Franc Pediat 24:693-702.
122. Saito T, Kinoshita A, Yoshiura K, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N. 2001. Domain-specific mutations of the transforming growth factor (TGF)-B1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-B1. J Biol Chem 276:11469-11472.
123. Saraiva JM. 1997. Progressive diaphyseal dysplasia: A three-generation family with markedly variable expressivity. Am J Med Genet 71:348-352.
124. Schapira D, Militeanu D, Israel O, Misselevich I, Scharf Y. 1995. Progressive diaphyseal dysplasia masquerading as shoulder capsulitis in an adult. Clin Rheumatol 14:582-585.
125. Schollaert E, Pouders E, Matton P, Claessens H, Van de Velde E. 1983. Diaphyseal dysplasia late radiological discovery of 3 familial cases. J Belge de Radiol 66:93-99.
126. Sear HR. 1948. Engelmann's disease osteopathia hyperostotica scleroticans multiplex infantalis. Br J Radiol 21:236-241.
127. Shier CK, Krasicky GA, Ellis BI, Kottamasu SR. 1987. Ribbing's disease: Radiographic-scintigraphic correlation and comparative analysis with Engelmann's disease. J Nucl Med 28:244-248.
128. Singleton EB, Thomas JR, Worthington WW, Hild JR. 1956. Progressive diaphyseal dysplasia (Engelmann's disease). Radiology 67:233-240.
129. Smith R, Walton RJ, Corner BD, Gordon IRS. 1977. Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia). QJM 46:273-294.
130. Sparkes RS, Graham CB. 1972. Camurati-Engelmann disease genetics and clinical manifestations with a review of the literature. J Med Genet 9:73-85.
131. Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, Gardner JC, Galas D, Schatzman RC, Beighton P, Papapoulos S, Hamersma H, Brunkow ME. 2002. A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. Am J Med Genet 110:144-152.
132. Stegman KF, Peterson JC. 1957. Progressive hereditary diaphyseal dysplasia. Pediatrics 20:966-973.
133. Stenzler S, Grogan DP, Frenchman SM, McClelland S, Ogden JA. 1989. Progressive diaphyseal dysplasia presenting as neuromuscular disease. J Pediatr Orthop 9:463-467.
134. Stewart HB, Cole ER. 1956. Progressive diaphyseal dysplasia (Engelmann's disease). J Pediatr 48:482-485.
135. Stirpe M. 1965. Esoftalmo ed insufficienze di convergenza nel morbo di Camurati-Engelmann. Boll Oculist 44:625-646.
136. Stronge RF, McDowell HB. 1950. A case of Engelmann's disease progressive diaphysial dysplasia. J Bone Joint Surg 32B:38-39.
137. Thelen PO. 1961. Familiares Auftreten einer Camurati-Engelmann Erkrankung. Fortschr Geb Rontgenstr Nuklearmed 94:713-717.
138. Trunk G, Newman A, Davis TE. 1969. Progressive and hereditary diaphyseal dysplasia Engelmann's disease. Arch Intern Med 123:417-422.
139. Tucker AS, Klein L, Antonay GJ. 1976. Craniodiaphyseal dysplasia: Evolution over a five-year period. Skeletal Radiol 1:47-53.
140. van Buchem FS, Hadders HN, Hansen JF, Woldring MG. 1962. Hyperostosis corticalis generalisata: Report of seven cases. Amer J Med 33:387-397.
141. Van Dalsem VF, Genant HK, Newton TH. 1979. Progressive diaphyseal dysplasia report of a case with thirty-four years of progressive disease. J Bone Joint Surg Am 61:596-598.
142. Vaughn SP, Broussard S, Hall CR, Scott A, Blanton SH, Milunsky JM, Hecht JT. 2000. Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region. Genomics 66:119-121.
143. Verbruggen LA, Bossuyt A, Schreuer R, Somers G. 1985. Clinical and scintigraphic evaluation of corticosteroid treatment in a case of progressive diaphyseal dysplasia. J Rheumatol 12:809-813.
144. Viviani G. 1960. Un caso di malattia di Camurati-Englemann. Ann Radiol Diagn (Bologna) 33:340-352.
145. Weingraber H. 1954. Eine neue Beobachtung bein einem Fall von osteopathia hyperostotica Engelmann-Camurati. Fortchr Geb Röntgenstrahlen 81:800-804.
146. Wetzel H. 1964. Progressive diaphyseal hyperostosis (Camurati-Engelmann's disease). Germ Med Mon 9:285-287.
147. Whyte MP. 1990. Heritable metabolic and dysplastic bone diseases. Endocrinol Metab Clin North Am 19:133-173.
148. Wiedemann HR. 1948. Systematisierte skerotische Hyperostose des Kindesalters mit Myopathie. Ztschr f Kinderh 65:346-367.
149. Willems D, Verhelst M, Mulier JC, Martens M. 1973. Englemann's disease report of four cases with review of literature. J Belge Radiol 56:395-399.
150. Wolf BH, Ford HW. 1971. An unusual radiographic manifestation of Engelmann's disease in a young negro child. Radiology 99:401-402.
151. Worth HM, Wollin DG. 1966. Hyperostosis corticalis generalisata congenita. J Can Assoc Radiol 17:67-74.
152. Yamada Y, Miyauchi A, Goto J, Takagi Y, Okuizumi H, Kanematsu M, Hase M, Takai H, Harada A, Ikeda K. 1998. Association of a polymorphism of the transforming growth factor-B1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women. J Bone Min Res 13:1569-1576.
153. Yamada Y, Ando F, Naoakira N, Shimokata H. 2001a. Transforming growth factor-B1 gene polymorphism and bone mineral density. JAMA 285:167-168.
154. Yamada Y, Miyauchi A, Takagi Y, Tanaka M, Mizuno M, Harada A. 2001b. Association of the C-509T polymorphism, alone or in combination with the T869C polymorphism, of the transforming growth factor-B1 gene with bone mineral density and genetic susceptibility to osteoporosis in Japanese women. J Mol Med 79:149-156.
155. Yoshioka H, Mino M, Kiyosawa N, Hirasawa Y, Morikawa Y, Kasubuchi Y, Kusunoki T. 1980. Muscular changes in Engelmann's disease. Arch Dis Child 55:716-719.
156. Yvars MF. 1969. Engelmann's disease a case report. Clin Orthop 62:206-208.
157. Ziv E, Kahn A, Cauley J, Morin P, Saiz R, Browner W. 2003. No association between the TGF B1 Leu10Pro polymorphism and osteoporosis among white women in the United States. Am J Med 114:227-231.