The Erlenmeyer flask bone deformity in the skeletal dysplasias

American Journal of Medical Genetics, Part A

Volumn 149, Issue 6, 2009, Pages 1334-1345

  Faden, Maha A ^a,b,c   Krakow, Deborah ^b   Ezgu, Fatih ^b   Rimoin, David L ^b   Lachman, Ralph S ^b  

^a Riyadh Medical Complex   (Saudi Arabia)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Erlenmeyer flask deformity; Osteochondrodysplasias; Skeletal dysplasias

Indexed keywords

ALBERS SCHOENBERG DISEASE; BONE DYSPLASIA; BONE MALFORMATION; BONE RADIOGRAPHY; CAMURATI ENGELMANN DISEASE; CHONDRODYSPLASIA; DISEASE ASSOCIATION; ERLENMEYER FLASK BONE DEFORMITY; HUMAN; PRIORITY JOURNAL; REVIEW;

BONE AND BONES; BONE DISEASES; BONE DISEASES, DEVELOPMENTAL; COHORT STUDIES; CONGENITAL ABNORMALITIES; FEMUR; HUMANS; MALE; OSTEOCHONDRODYSPLASIAS;

EID: 66349084730     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32253     Document Type: Review

References (80)

1. Ahn S, Yoo M, Lee S, Choi E. 1996.Aclinical and histopathological study of 22 patients with membranous lipodystrophy. Clin Exp Dermatol 21:269-272. (Pubitemid 26380191)
2. Akai M, Tateishi A, Cheng CH, Morii K, Abe M, Ohno T, Ben M. 1977. Membranous lipodystrophy: A clinicopathological study of six cases. J Bone Joint Surg Am 59:802-809. (Pubitemid 8191211)
3. Bakwin H, Krida A. 1937. Familial metaphyseal dysplasia. Am J Dis Child 53:1521-1527.
4. Barak V, Acker M, Nisman B, Kalickman I, Abrahamov A, Zimran A, Yatziv S. 1999. Cytokines in Gaucher's disease. Eur Cytokine Netw 10:205-210. (Pubitemid 29332776)
5. Beighton P, Cremin BJ. 1980. Sclerosing bone dysplasias. Berlin: Springer Verlag. p 16.
6. Bianchin MM, Capella HM, Chaves DL, Steindel M, Grisard EC, Ganev GG, da Silva JP Jr, Neto Evaldo S, Poffo MA, Walz R, Carlotti CG Jr, Sakamoto AC. 2004. Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-PLOSL): A dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. Cell Mol Neurobiol 24:1-24.
7. Blickman JG, Wilkinson RH, Graef JW. 1986. The radiologic "lead band" revisited. AJR. Am J Roentgenol 146:245-247.
8. Bollerslev J, Mosekilde L. 1993. Autosomal dominant osteopetrosis. Clin Orthop Relat Res 294:45-51. (Pubitemid 23277082)
9. Bourke E, Delaney VB, Mosawi M, Reavey P, Weston M. 1981. Renal tubular acidosis and osteopetrosis in siblings. Nephron 28:268-272. (Pubitemid 12235155)
10. Braun HS, Nurnberg P, Tinschert S. 2001. Metaphyseal dysplasia: A new autosomal dominant type in a large German kindred. Am J Med Genet 101:74-77. (Pubitemid 32429916)
11. Butora M, Kissling R, Frick P. 1989. Bone changes in Gaucher disease. Z Rheumatol 48:326-330.
12. Camurati M. 1922. Di uno raro caso di osteite simmetrica ereditaria degli arti inferiori. Chir Organi 6:662-665.
13. Candoni A, Grimaz S, Dore TP, Fanin R, Falcomer F, Bembi B. 2001. Sea-blue histiocytosis secondary to Niemann-Pick disease type B: A case report. Ann Hematol 80:620-622. (Pubitemid 33062006)
14. Cantu JM, Garcia-Cruz D, Sanchez-Corona J, Hernandez A, Nazara Z. 1982. A distinct osteochondrodysplasia with hypertrichosis-Individualization of a probable autosomal recessive entity. Hum Genet 60:36-41. (Pubitemid 12188329)
15. Castriota-Scanderbeg A, Dallapiccola B. 2005. Abnormal skeletal phenotypes. Berlin: Springer Verlag. p 343-344.
16. Concolino D, Formicola S, Camera G, Strisciuglio P. 2000. Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantu syndrome): A new case with unusual radiological findings. Am J Med Genet 92:191-194. (Pubitemid 30228490)
17. Cooley TB, Witwer ER, Lee P. 1927. Anemia in children with splenomegaly and peculiar changes in the bones. Am J Disorders Childhood 34:347.
18. Crocker AC, Farber S. 1958. Niemann pick disease: A review of eighteen patients. Medicine 37:1-195.
19. Danks DM, Mayne V, Hall RK, McKinnon MC. 1972. Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue. Am J Dis Child 123:254-258.
20. D'Arena G, Bisceglia M, Ladogana S, Carella AM, Carotenuto M, Paolucci P. 2001. Expansion of hematogones in a patient with Gaucher disease. Med Pediatr Oncol 36:657-658. (Pubitemid 32402166)
21. Disler DG, Alexander AA, Mankin HJ, O'Connell JX, Rosenberg AE, Rosenthal DI. 1993. Multicentric fibromatosis with metaphyseal dysplasia. Radiology 187:489-492.
22. Eisenstein R, Kawanoue S. 1975. The lead line in bone - Alesion apparently due to chondroclastic indigestion. Am J Pathol 80:309-316.
23. Elcioglu NH, Vellodi A, Hall CM. 2002. Dysosteosclerosis: A report of three new cases and evolution of the radiological findings. J Med Genet 39:603-607.
24. Elster AD, Theros EG, Key LL, Chen MY. 1992. Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium. Radiology 183:129-135.
25. Engelmann G. 1929. Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis. Fortschr Geb Roentgenstr Nukl 39:1101-1106.
26. Engels H, Bosse K, Ehrbrecht A, Zahn S, Hoischen A, Propping P, Bindl L, Reutter H. 2002. Further case of Cantu syndrome: Exclusion of cryptic subtelomeric chromosome aberrations. Am J Med Genet 111:205-209. (Pubitemid 34809506)
27. Gildenhorn HL, Amromin GD. 1961. Report of a case with Niemann-Pick disease: Correlation of roentgenographic and autopsy findings. Am J Roentgenol Radium Ther Nucl Med 85:680-684.
28. Goldblatt J, Sacks S, Beighton P. 1978. The orthopedic aspects of Gaucher disease. Clin Orthop Relat Res 137:208-214. (Pubitemid 9108145)
29. Gorlin RJ, Cohen MM. 1969. Frontometaphyseal dysplasia. A new syndrome. Am J Dis Child 118:487-494.
30. Gorlin RJ, Miskin LH, St Geme JW. 1963. Oculodentodigital dysplasia. J Pediatr 63:69-75.
31. Gorlin RJ, Spranger J, Koszalka MF. 1969. Genetic craniotubular bone dysplasia and hyperstoses; a critical analysis. Birth Defects Orig Art Ser 4:79.
32. Gorlin RJ, Koszalka MF, Spranger J. 1970. Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. J Bone Joint Surg Am 52:347-354.
33. Halal F, Picard JL, Raymond-Tremblay D, de Bosset P. 1982. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. Am J Med Genet 13:71-79. (Pubitemid 12048216)
34. Hohle B. 1982. Eine neue form der familiaren metaohysaren dysplasie. Helv Paediatr Acta 37:151.
35. Horn D, Nitz I, Bollmann R. 1995. Oto-palato-digital syndrome with features of type I and II in brothers. Genet Couns 6:233-240.
36. Hsu NG, Raad MS, Hamersma H, Cremin BJ, Beighton P. 1979. The radiological manifestations of metaphyseal dysplasia (Pyle disease). Brit J Radiol 52:431-440. (Pubitemid 9192715)
37. Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR. 2000. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q 21-22and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet 95:482-491.
38. Jackson WP, Albright F, Drewery G, Hanelin J, Rubin MI. 1954. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling. AMA Arch Intern Med 94:871-885.
39. Kosnett MJ, Wedeen RP, Rothenberg SJ, Hipkins KL, Materna BL, Schwartz BS, Hu H, Woolf A. 2007. Recommendations for medical management of adult lead exposure. Environ Health Perspect 115:463-471. (Pubitemid 46554448)
40. Lachman RS. 2007. Taybi and Lachman's radiology of syndromes, metabolic disorders and skeletal dysplasias. Philadelphia: Mosby Elsevier.
41. Lachman R, Crocker A, Schulman J, Strand R. 1973. Radiological findings in Niemann-Pick disease. Radiology 108:659-664.
42. Lamm CI, Norton KI, Murphy RJ, Wilkins IA, Rabinowitz JG. 1988. Congenital rickets associated with magnesium sulfate infusion for tocolysis. J Pediatr 113:1078-1082. (Pubitemid 19014263)
43. Langer LO, Brill PW, Afshani E, Williams CA, Thomas IT, Frias JL. 1991. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type. Skeletal Radiol 20:37-41.
44. Lelek I. 1961. Camurati-Engelmann disease. Fortschr Roentgenstr 94:702-712.
45. Littlewood JM, Lewis GM. 1963. The Holmes-Adie syndrome in a body with acute juvenile rheumatism and bilateral syndactyly. Arch Dis Child 38:86-88.
46. Madry H, Prudlo J, Grgic A, Freyschmidt J. 2007. Nasu-Hakola disease (PLOSL): Report of five cases and review of the literature. Clin Orthop Relat Res 454:262-269. (Pubitemid 46066042)
47. Makela P, Jarvi O, Hakola P, Virtama P. 1982. Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Skeletal Radiol 8:51-54.
48. Makita Y, Nishimura G, Ikegawa S, Ishii T, Ito Y, Okuno A. 2000. Intrafamilial phenotypic variability in Engelman disease (ED): Are ED and Ribbing disease the same entity? Am J Med Genet 91:153-156.
49. Medlar RC, Crawford AH. 1978. Frontometaphyseal dysplasia presenting as scoliosis. J Bone Joint Surg Am 60:392-394.
50. Minai OA, Sullivan EJ, Stoller JK. 2000. Pulmonary involvement in Niemann-Pick disease: Case report and literature review. Respir Med 94:1241-1251. (Pubitemid 32049253)
51. Mohn A, Capanna R, Delli Pizzi C, Morgese G, Chiarelli F. 2004. Autosomal malignant osteopetrosis. From diagnosis to therapy. Minerva Pediatr 56:115-118.
52. Nishimura G, Hasegawa T, Kinoshita E, Tanaka Y, Kurosawa K, Yoshimoto M. 2004. Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child. Am J Med Genet Part A 128A:204-208. (Pubitemid 39162949)
53. Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S. 2001. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 28:37-41. (Pubitemid 32405813)
54. Ohlsson A, Stark G, Sakati N. 1980. Marble brain disease: Recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. Dev Med Child Neurol 22:72-84. (Pubitemid 10164083)
55. Penchaszadeh VB, Gutierrez ER, Figueroa E. 1980. Autosomal recessive craniometaphyseal dysplasia. Am J Med Genet 5:43-55. (Pubitemid 10004810)
56. Polijvka D. 1972. Metaphyseal dysplasia with hemimelic distribution. Acta Chir Orthop Traumatol Cech 39:98-104.
57. Pyle E. 1931. Case of unusual bone development. J. Bone Joint Surg 13:874-876.
58. Rajic DS, De Veber LL. 1966. Hereditary oculodentoosseous dysplasia. Ann Radiol 9:224-231.
59. Robertson SP. 2007. Otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. Eur J Hum Genet 15:3-9. (Pubitemid 44921659)
60. Robertson SP, Kirk E, Bernier F, Brereton J, Turner A, Bankier A. 1999. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome. Am J Med Genet 85:395-402. (Pubitemid 29339971)
61. Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO. OPD-spectrum Disorders Clinical Collaborative Group. 2003. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487-491. (Pubitemid 36390010)
62. Schaefer B, Stein S,OshmanD, Rennert O, Thurnau G, Wall J, Bodensteiner J, Brown O. 1986. Dominantly inherited craniodiaphyseal dysplasia: A new craniotubular dysplasia. Clin Genet 30:381-391. (Pubitemid 17200186)
63. Schwartz E. 1960. Craniometaphyseal dysplasia. Am J Roentgenol 84:461-466.
64. Sears HR. 1948. Engelmann's disease: Ostepathica hyperosteotica sclerotisans multiplex infantilis. Report of a case. Br J Radiology 21:236.
65. Senel K, Ugur M, Erdal A, Ozdemir H. 2002. Type II autosomal dominant osteopetrosis. Rheumatol Int 22:116-118. (Pubitemid 34983828)
66. Smith GE, Jones FW. 1910. The Archaeological survey of Nubia. Report for 1907-1908. Cairo 2:289.
67. Spiro PC, Hamersma H, Beighton P. 1975. Radiology of the autosomal dominant form of craniometaphyseal dysplasia. S Afr Med J 49:839-842.
68. Spranger JW, Albrecht C, Rohwedder HJ, Wiedemann HR. 1968. Die Dysosteosklerose: Eine Sonderform der generalisierten Osteosklerose. Fortschr Roentgenstr 109:504-512.
69. Sydney JH. 1949. A rare case of bone dystrophy. Brit J Surgery 37:52-63.
70. Takata S, Nishimura G, Ikegawa S, Kuroda Y, Nishino M, Matsui Y, Yasui N. 2006. Metaphyseal dysplasia of Braun-Tinschert type: Report of a Japanese girl. Am J Med Genet Part A 140A:1234-1237. (Pubitemid 43828086)
71. Temtamy SA, El-Meligh MR, Badrawy HS, Meguid MS, Safwat HM. 1974. Metaphyseal dysplasia, anetoderma and optic atrophy: An autosomal recessive syndrome. Birth Defects Orig Artic Ser 10:61-71.
72. Tyler PA, Madani G, Chaudhuri R, Wilson LF, Dick EA. 2006. The radiological appearances of thalassaemia. Clin Radiol 61:40-52. (Pubitemid 43040385)
73. Urteaga O, Moseley JE. 1967. Craniometaphyseal dysplasia (Pyle's disease) in an ancient skeleton from the Mochica culture of Peru. Am J Roentgenol Radium Ther Nucl Med 99:712-716.
74. Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. 2000. Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet 90:407-422. (Pubitemid 30080640)
75. Wedig KE, Kogan J, Schorry EK, Whitsett JA. 2006. Skeletal demineralization and fractures caused by fetal magnesium toxicity. J Perinatol 26:371-374. (Pubitemid 43811515)
76. Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. 2002. Skeletal aspects of Gaucher disease: A review. Br J Radiol 75:2-12. (Pubitemid 34654095)
77. Whyte MP, Murphy WA, Fallon MD, Sly WS, Teitelbaum SL, McAlister WH, Avioli LV. 1980. Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med 69:64-74. (Pubitemid 10084688)
78. Williams CA. 1988. A new syndrome of craniotubular dysplasia having diaphyseal and metaphyseal modeling defects and increase susceptibility to fracture. Baltimore: March of Dimes Birth Defects Conference.
79. Wonke B. 1998. Bone disease in beta-thalassaemia major. Br J Haematol 103:897-901.
80. Zackai EH, Sly WS, McAlister WG. 1972. Microcephaly, mild mental retardation, short stature, and skeletal anomalies in siblings. Am J Dis Child 124:111-115.