Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 6, 2003, Pages 2650-2655

  Hernandez Cassis, Carlos ^a,b   Vogel, Claudia K ^a   Hernandez, Tatiana P ^b   Econs, Michael J ^c   Iglesias, Melitza ^d   Iglesias, Antonio ^d   Levis, Silvina ^a,e   Roos, Bernard A ^a,e   Howard, Guy A ^a,e   Gamarra, Antonio Iglesias ^f  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSIDAD DEL NORTE   (Colombia)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSIDAD EL BOSQUE   (Colombia)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

^f UNIVERSIDAD NACIONAL DE COLOMBIA   (Colombia)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE;

ADULT; AGE DISTRIBUTION; AGED; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BODY HEIGHT; BONE DENSITY; BONE MASS; BONE MINERAL; BONE RADIOGRAPHY; CLAVICLE; CLINICAL ARTICLE; COLOMBIA; CONTROLLED STUDY; CORTICAL BONE; CRANIAL NERVE; ENZYME ACTIVITY; FACIES; FAMILY; FEMALE; FRACTURE; GENDER; HEMATOPOIESIS; HUMAN; HYPEROSTOSIS; INHERITANCE; LONG BONE; MALE; MANDIBLE; OSTEOSCLEROSIS; PELVIS; PERIOSTEUM; PRIORITY JOURNAL; RIB; SCAPULA; SCHOOL CHILD; SKULL; TRABECULAR BONE; VERTEBRA BODY;

EID: 0037629948     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2001-011428     Document Type: Article

References (33)

1. Smith DM, Nance WE, Kang KW, Christian JC, Johnston Jr CC 1973 Genetic factors in determining bone mass. J Clin Invest 52:2800-2808
2. Slemenda CW, Christian JC, Williams CJ, Norton JA, Johnston Jr CC 1991 Genetic determinants of bone mass in adult women: A reevaluation of the twin model and the potential importance of gene interaction on heritability estimates. J Bone Miner Res 6:561-567
3. Albers-Schönberg H 1904 Rontgenbilder einer seltenen, Knochenerkrankung. Meunch Med Wochenschr 51:365
4. Engelmann G 1929 Ein fall von osteopathia hyperostotica (sclerotisans) multiplex infantilis. Geb Fortschr Rontgenstr 39:1101-1106
5. Ribbing S 1949 Hereditary, multiple, diaphysial sclerosis. Acta Radiol 31:522-536
6. Halliday J 1950 A rare case of bone dystrophy. Brit J Surg 35:52-64
7. Van Buchem FSP, Hadders HN, Ubbens R 1955 An uncommon familiar systemic disease of the skeleton. Hyperostosis corticalis generalisata familiaris. Acta Radiol (Stockh) 44:109-120
8. Van Buchem FSP, Hadders HN, Hansen JF, Woldring MG 1962 Hyperostosis corticalis generalisata. Report of seven cases. Am J Med 33:387-397
9. Van Buchem FSP 1971 Hyperostosis corticalis generalisata: eight new cases. Acta Med Scandinavica 189:257-267
10. Truswell AS 1958 Osteopetrosis with syndactilia. A morphological variant of Albers-Schönberg disease. J Bone Joint Surg 40:208-218
11. Hansen HG 1967 Sklerosteose in handbuchder kinder heilkunde. Opitz J Schmid feds. New York: Springer Berlin; 3:351-355
12. Worth HM, Wollin DG 1966 Hyperostosis corticalis generalisata congenita. J Can Assoc Radiol; 17:67-74
13. Russell WJ, Bizzozero OJ, Onori Y 1968 Idiopathic osteosclerosis. Radiology 90:70-80
14. Bollerslev J, Andersen Jr PE 1988 Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 9:7-13
15. Bollerslev J 1989 Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical and hormonal aspects. Endocr Rev 10:45-67
16. Villareal DT, Murphy WA, Teitelbaum SL, Arens MQ, Whyte MP 1992 Painful diffuse osteosclerosis after intravenous drug abuse. Am J Med 93:371-381
17. Johnson ML, Gong G, Kimberling W, Recker SM, Kimmel DB, Recker RR 1997 Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13). Am J Hum Genet 60:1326-1332
18. Whyte MP 1997 Skeletal disorders characterized by osteosclerosis or hyperostosis. In: Avioli LV, Krane SM, eds. Metabolic bone disease. 2nd ed. San Diego: Academic Press; 697-738
19. Marks Jr SC 1987 Osteopetrosis: multiple pathways for the interception of osteoclast function. Appl Pathol 5:172-183
20. Vernejoul MC, Benichou O 2001 Human osteopetrosis and other sclerosing disorders: recent genetic developments. Calcif Tissue Int 69:1-6
21. Cleiren E, Benichou O, van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, van Hul W 2001 Albers-Schomberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CICN7 chloride channel gene. Hum Mol Genet 10:2861-2867
22. Iglesias A, Hernández-Cassis C, Cueto J, Chichilla A, Velasco O, Mercado J, de Egea G, Paez O 1988 Hiperostosis cortical generalizada. Presentación de cuatro casos. Descripción de una nueva variante. Salud Uninorte 4-5:181-196
23. Iglesias A, Hernández-Cassis C, Forero E, Zuniga IR, Chalem P, Restrepo JF, Rondon F, Hernandez T, Cure C, Giraldo A, Bermudez A, Sierra O, Vargas R, Iglesias M, Pena M 1996 Hiperostosis cortical generalizada, un nuevo síndrome. Estudio de siete casos. Revista española de endocrinología y metabolismo. 5:9-13
24. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107:513-523
25. Anonymous 2000 Analytical Software Statistix7 (user's manual). 2nd ed. Tallahassee, FL: Analytical Software
26. Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP, Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweiger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowicz A, Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML 2002 A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 70:11-19
27. Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP 2002 High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 346:1513-1521
28. Caffey J, Silverman WA 1945 Infantile cortical hyperostosis. Preliminary report on a new syndrome. Am J Bone 54:1-16
29. Touraine A, Solente G, Golé L 1935 Un syndrome osteodermopathique; la pachydermie plicaturee avec pachyperiostose des extremities. Press Medical 43:1820-1824
30. Swobodaj JW 1958 Hyperostosis corticalis deformans juvenilis. Helv Pediatr Acta 13:292-297
31. Andersen Jr PE, Bollerslev J 1987 Heterogeneity of autosomal dominant osteopetrosis. Radiology 164:223-225
32. Bollerslev J, Mosekilde L 1993 Autosomal dominant osteopetrosis. Clin Orthop 294:45-51
33. Glimcher MJ 1998 The nature of the mineral phase in bone: biological and clinical implications. In: Avioli LV, Krane SM, eds. Metabolic bone disease and clinically related disorders. 3rd ed. San Diego: Academic Press; 23-51