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2010, Número 1

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Rev Mex Ortop Ped 2010; 12 (1)


Síndrome de Dyggve-Melchior-Clausen, evolución de un caso y revisión de la literatura

Téllez BKC, Cortés GJ

Idioma: Español
Referencias bibliográficas: 63
Paginas: 53-58
Archivo PDF: 226.00 Kb.


RESUMEN

El síndrome de Dyggve-Melchior-Clausen (DMC) es una enfermedad de baja incidencia con herencia autosómica recesiva, producida por mutaciones en el gen Dymeclin recientemente identificado. Se reporta un caso clínico de un paciente de 16 años con dismorfismo postnatal, platiespondílea y displasia epifisiaria y metafisiaria; valorándose su evolución, retraso mental, pruebas bioquímicas y hallazgos radiográficos nos orientamos al diagnóstico de DMC. Es importante conocer la entidad que se puede confundir con la enfermedad de Morquio, pues hasta el momento se carece de un marcador bioquímico específico.
Nivel de evidencia: IV


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Dimitrov A, Paupe V. Hum The gene responsible for Dyggve- Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. Mol Genet 2009; 18(3): 440-53. Epub 2008 Nov 7.

  2. Osipovich AB, Jennings JL, Lin Q, Link AJ, Ruley HE. Dyggve- Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traff. Proc Natl Acad Sci USA. 2008 Oct.

  3. Girisha KM, Cormier-Daire V, Heuertz S, Phadke RV, Phke SR. Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome. Eur J Med Genet 2008; 51(3).

  4. Rodríguez-Rodríguez CM, Pineda-Marfa M, Duque R, Cormier-Daire V. Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease. Neurologia 2007; 22(2): 126-9.

  5. Martínez-Frías ML, Cormier-Daire V, Cohn DH, Mendioroz J, Bermejo E, Mansilla E. Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin. Med Clin (Barc) 2007; 128(4): 137-40.

  6. Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V. Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith- McCort dysplasia. Am J Med Genet A 2006; 140(5): 421-6.

  7. Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC. Genomic duplication in Dyggve-Melchior-Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder. J Med Genet 2005; 42(12): 70.

  8. Bayrak IK, Nural MS, Diren HB. Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia). Diagn Interv Radiol 2005; 11(3): 163-5.

  9. Carbonell PG, Fernández PD, Vicente-Franqueira JR. MRI findings in Dyggve-Melchior-Clausen syndrome, a rare spondyloepiphyseal dysplasia. J Magn Reson Imaging 2005; 22(4): 572-6.

  10. Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH. Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith- McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain. Am J Med Genet A 2005; 138(1): 75-8.

  11. Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. Eur J Hum Genet 2005; 13(5): 541-6.

  12. Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V. Recent advances in Dyggve-Melchior- Clausen syndrome. Mol Genet Metab 2004; 83(1-2): 51-9.

  13. El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet 2003; 12(3): 357-64.

  14. Burns C, Powell BR, Hsia YE, Reinker K. Dyggve-Melchior- Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature. J Pediatr Orthop 2003; 23(1): 88-93.

  15. Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Am J Hum Genet 2003; 72(2): 419-28. Epub 2002 Dec.

  16. Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, DagoneauN, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. J Med Genet 2002; 39(10): 714-7.

  17. Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Am J Hum Genet 2002; 71(4): 947-51. Epub 2002 Aug 2.

  18. Kandziora F, Neumann L, Schnake KJ, Khodadadyan-Klostermann C, Rehart S, Haas NP, Mittlmeier T. Atlantoaxial instability in Dyggve-Melchior-Clausen syndrome. Case report and review of the literature. J Neurosurg 2002; 96(1 Suppl): 112-7.

  19. Eguchi M, Kadota Y, Yoshida Y, Masuda M, Masuyama T, Kammura Y. [Anesthetic management of a patient with Dyggve-Melchior-Clausen syndrome]. Masui 2001; 50(10): 1116-7.

  20. Coëslier A, Boute-Bénéjean O, Moerman A, Fron D, Manouvrier- Hanu S. [Dyggve-Melchior-Clausen syndrome: differentialdiagnosis of mucopolysaccharidosis type IV or Morquio disease]. Arch Pediatr 2001; 8(8): 838-42.

  21. Okamoto N. Dyggve-Melchior-Clausen syndrome. Ryoikibetsu Shokogun Shirizu 2001; (33): 586-7.

  22. Kondoh T, Matsumoto T. [Dyggve-Melchior-Clausen syndrome]. Ryoikibetsu Shokogun Shirizu 2000; (30 Pt 5): 175-6.

  23. Khosravi M, Weaver DD, Bull MJ, Lachman R, Rimoin DL. Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration. Am J Med Genet 1998; 77(1): 63-71.

  24. Hosny GA, Fabry G. Treatment of hip subluxation in Dyggve- Melchior-Clausen syndrome. J Pediatr Orthop B 1998; 7(1): 32-4.

  25. Nakamura K, Kurokawa T, Nagano A, Nakamura S, Taniguchi K, Hamazaki M. Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest. Am J Med Genet 1997; 72(1): 11-7.

  26. Galasso C, Fabbri F, Pagnotta G, Palusci A, Sanna ML, Serrao Arnone D, Scirè G. [Dyggve-Melchior-Clausen syndrome: description of 2 further cases]. Pediatr Med Chir 1995; 17(6): 573-6.

  27. Sztrolovics R, Rimoin DL, Rodriguez E, Roughley RJ. Singlestrand conformation polymorphism analysis of human decorin, biglycan and fibromodulin cDNAs. Matrix Biol 1994; 14(4): 307-12.

  28. Winship WS, Rubin DL. The Dyggve-Melchior-Clausen syndrome in Indian siblings. Clin Genet 1992; 42(5): 240-5.

  29. Roesel RA, Carroll JE, Rizzo WB, van der Zalm T, Hahn DA. Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine. J Inherit Metab Dis 1991; 14(6): 876-80.

  30. Beighton P. Dyggve-Melchior-Clausen syndrome. J Med Genet 1990; 27(8): 512-5.

  31. Frediani P, Capilupi B, Kunzle AL, Brunelli PC, Maruffi G. [Dyggve-Melchior-Clausen syndrome: 2 cases of ours]. Chir Organi Mov 1988; 73(4): 379-83.

  32. Depuyt F, Crolla D, Vermeulen J, Van Haesebrouck P, Devos E. Dyggve-Melchior-Clausen syndrome (type II). J Belge Radiol 1987; 70(1): 25-9.

  33. Hall-Craggs MA, Chapman M. Case report 431: Dyggve- Melchior-Clausen syndrome (DMCS). Skeletal Radiol 1987; 16(5): 422-4.

  34. Beck M, Lücke R, Kresse H. Dyggve-Melchior-Clausen syndrome: normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate. Clin Chim Acta 1984; 141(1): 7-15.

  35. Beemer FA, Hennekam RC. Dyggve-Melchior-Clausen syndrom. Tijdschr Kindergeneeskd 1984; 52(3): 103-7.

  36. Engfeldt B, Bui TH, Eklöf O, Hjerpe A, Reinholt FP, Ritzen EM, Wikström B. Dyggve-Melchior-Clausen dysplasia. Morphological and biochemical findings in cartilage growth zones. Acta Paediatr Scand 1983; 72(2): 269-74.

  37. Horton WA, Scott CI. Dyggve-Melchior-Clausen syndrome. A histochemical study of the growth plate. J Bone Joint Surg Am 1982; 64(3): 408-15.

  38. Schlaepfer R, Rampini S, Wiesmann U. [Dyggve-Melchior- Clausen syndrome. Case report and review of the literature]. Helv Paediatr Acta 1981; 36(6): 543-59.

  39. Sbihi A, Benharbit R, Lahrichi A, Lahrech MT. [Dyggve-Melchior- Clausen dysplasia (apropos of a case)]. Maroc Med 1980; 2(4): 367-74.

  40. Yunis E, Fontalvo J, Quintero L. X-linked Dyggve-Melchior- Clausen syndrome. Clin Genet 1980; 18(4): 284-90.

  41. Rastogi SC, Clausen J, Melchior JC, Dyggve HV. Abnormal serum alpha 2-macroglobulin in Dyggve-Melchior-Clausen syndrome. J Clin Chem Clin Biochem 1980; 18(1): 67-8.

  42. Koppers B. [Smith-McCort syndrome (author’s transl)]. Rofo 1979; 130(2): 213-22.

  43. Toledo SP, Saldanha PH, Lamego C, Mourão PA, Dietrich CP, Mattar E. Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs. Am J Med Genet 1979; 4(3): 255-61.

  44. Bonafede RP, Beighton P. The Dyggve-Melchior-Clausensyndrome in adult siblings. Clin Genet 1978; 14(1): 24- 30.

  45. Rastogi SC, Clausen J, Melchior JC, Dyggve HV. Biochemical abnormalities in Dyggve-Melchior-Clausen syndrome. Clin Chim Acta 1978; 84(1-2): 173.

  46. Dyggve HV, Melchior JC, Clausen J, Rastogi SC. The Dyggve- Melchior-Clausen (DMC) syndrome. A 15 year follow-up and a survey of the present clinical and chemical findings. Neuropadiatrie 1977; 8(4): 429-42.

  47. Rastogi SC, Clausen J, Melchior JC, Dyggve HV, Jensen GE. Lysosomal (leucocyte) proteinase and sulfatase levels in Dyggve-Melchior-Clausen (DMC) syndrome. Acta Neurol Scand 1977; 56(5): 389-96.

  48. Serradell-Capdevila J, Pascual-Navarro JC. [Dyggve-Melchior- Clausen’s syndrome (author’s transl)]. Esp Pediatr 1977; 10(8-9): 677-81.

  49. Rastogi SC, Clausen J, Melchior JC, Dyggve HV. The Dyggve-Melchior- Clausen syndrome. Clin Chim Acta 1977; 78(1): 55-69.

  50. Schorr S, Legum C, Ochshorn M, Hirsch M, Moses S, Lasch EE, El-Masri M. The Dyggve-Melchior-Clausen syndrome. AJR Am J Roentgenol 1977; 128(1): 107-13.

  51. Naffah J. The Dyggve-Melchior-Clausen syndrome. Am J Hum Genet 1976; 28(6): 607-14.

  52. Spranger J, Bierbaum B, Herrmann J. Heterogeneity of Dyggve- Melchior-Clausen dwarfism. Hum Genet 1976; 33(3): 279-87.

  53. Pascual-Castroviejo I, Casas C, Rodríguez-Costa T. [A case of Dyggve-Melchior-Clausen’s syndrome (author’s transl)]

  54. Spranger J, Maroteaux P, Der Kaloustian VM. The Dyggve-Melchior- Clausen syndrome. Radiology 1975; 114(2): 415-21.

  55. Naffah J, Taleb N. [2 further cases of Dyggve-Melchior-Clausen syndrome with hypoplasia of the odontoid apophysis and spinal compression]. Arch Fr Pediatr 1974; 31(10): 985-92.

  56. Afifi AK, Der Kaloustian VM, Bahuth NB, Mire-Salman J. Concentrically laminated membranous inclusions in myofibres of Dyggve-Melchior-Clausen syndrome. J Neurol Sci 1974; 21(3): 335-40.

  57. Dyggve H, Clausen J, Melchior JC. [Hurler’s syndrome. Mucopolysaccharidosis I, MPS I, gargoylism, lipochondrodystrophy]. Ugeskr Laeger 1973; 135(6): 298.

  58. Dyggve HV, Melchior JC, Clausen J. [Oligophrenia-selected syndromes XXI. Dyggve-Melchior-Clausen syndrome (DMC syndrome)]. Ugeskr Laeger 1973; 135(3): 127.

  59. Kaufman RL, Rimoin DL, McAlister WH. The Dyggve-Melchior- Clausen syndrome. Birth Defects Orig Artic Ser 1971; 7(1): 144-9.

  60. Clausen J, Dyggve HV, Melchior JC. Chemical and enzymic studies of a family with skeletal abnormalities associated with mental retardation. Clin Chim Acta 1970; 29(2): 197- 207.

  61. Clausen J, Dyggve HV, Melchior JC, Lou HO. Chemical studies in gargoylism. Arch Dis Child 1967; 42(221): 62-9

  62. Melchior JC, Clausen J, Dyggve HV. The mucopolysaccharidoses. A Clinical and biochemical survey. Clin Pediatr (Phila) 1965; 4: 468-80.

  63. Clausen J, Dyggve HV, Melchior JC. Mucopolysaccharidosis: Paper electrophoretic and infra-red analysis of the urine in gargoylism and Morquio-Ullrich’s disease. Arch Dis Child 1963; 38: 364-7.




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