Domínguez CLG, Arellano AG

Idioma: Español
Referencias bibliográficas: 42
Paginas: 191-196
Archivo PDF: 112.27 Kb.

RESUMEN

Objetivo: Reportar una familia portadora de un síndrome poco frecuente de etiología genética con un patrón de herencia autosómico dominante y expresión variable. Se trata de una familia que en cuatro generaciones manifiesta un síndrome caracterizado por: sinostosis radiocubital congénita, blefarofimosis, blefaroptosis, clinodactilia de 5to dedo, signo de Dubois (acortamiento de 5to dedo) y talla baja; este conjunto de datos corresponde al síndrome de Jorgenson-Lenz, catalogado como una dismorfia ectodérmica; reportado inicialmente en 1974. Presentamos además, una revisión de la literatura sobre sinostosis radiocubital, la cual puede acompañar a diferentes síndromes y de la que han sido reportados 350 casos; se mencionan las diferentes técnicas quirúrgicas para su corrección desde 1912 a la actualidad; como hallazgo que agregamos al síndrome de Jorgenson-Lenz reportamos la existencia de anastomosis anómala entre los nervios mediano y cubital denominada de Martin-Gruber, ocasionada por el defecto en la segmentación embrionaria, y de la cual, no existen reportes previos en la literatura acompañando al síndrome mencionado.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Jorgenson RJ. Microcephaly, short stature, radioulnar synostosis and ptosis. Birth Defects Orig Artic Ser 1974; 10: 196-7.

2. Rare Genetic Center. Orphanet J Clin Dysmorphic 1983; 1: 14-20.

3. Jorgenson RJ, Lenz W, Giovannucci UML. Blepharophimosis and radioulnar synostosis. J Clin Dysmorphol 1983; 1: 14-20.

4. Frydman M, Cohen HA, Karmon G, Savir H. Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature. Clin Genet 1992; 41: 57-61.

5. Udler Y, Halpern GJ, Shohat M, Cohen D. Syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis and mental retardation. Am J Med Genet 1998; 80: 526-28.

6. Giuffre L, Corsello G, Giuffre M, Piccione M, Albanese A. New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis. Am J Med Genet 1994; 51: 266-9.

7. Sandifort. Synostosis radioulnar. In: Hayward JA. The Romance of Medicine. London: Georg Routledge & Sons Ltd; 1937: 251-2.

8. Gros A. Radiocubital synostosis. In: Giuffre L, Corsello G, Giuffre M. New syndrome: autosomal dominant radio- ulnar synostosis. Am J Med Genet 1994; 51: 266-9.

9. Wilkie DP. Congenital radio-ulnar synostosis. Br J Surg 1914; 1: 366-75.

10. Davenport CB, Taylor HL, Nelson LA. Radio-ulnar synostosis. Arch Surg 1924; 8: 705-762.

11. Griffet J, Berard J, Michel CR, Caton J. Congenital superior radioulnar synostosis. A study of 43 cases. International Orthopaedics 1986; 10: 265-9.

12. Hansen OH, Andersen NO. Congenital radio-ulnar synostosis. Report of 37 cases. Acta Orthopaedica Scandinavica 1970; 411: 225-30.

13. Bauer M, Jonsson K. Congenital radio-ulnar synostosis. Scan J Plast Reconst Surg 1988; 22: 251-55.

14. Rizzo R, Pavone V, Corsello G, Sorge G, Neri G, Opitz JM. Autosomal dominant and sporadic radio-ulnar synostosis. Am J Med Genet 1997; 68: 127-34.

15. Berant M, Berant N. Radioulnar synostosis and craniosynostosis in one family. J Pediatr 1973; 83: 88-90.

16. Cenani A, Lenz W. Total syndactyly and total radioulnar synostosis in 2 brothers. A contribution on the genetics of syndactyly. Z Kinderheilkd 1967; 101: 181-90.

17. Simmons BP, Southmayd WW, Riseborough EJ. Congenital radioulnar synostosis. J Hand Surg 1983; 8: 829-38.

18. Charvat KA, Hornstein L, Oestreich AE. Radio-ulnar synostosis in Williams syndrome: A frequently associated anomaly. Pediatr Radiol 1991; 21: 508-10.

19. Venegas VC, Jiménez VA, Kofman AS, Cuevas CS. Diagnóstico clínico y citogenética-molecular en pacientes con síndrome de Williams. Rev Med Hosp Gen Mex 2003; 66: 192-97.

20. Wurapa R, Osterman L, Talavera F, Nystrom NA, Patel D, Gellman H. Radio-ulnar synostosis Medicine. 2004; 7: 1-7.

21. Tsukahara M, Matsuo K, Furukawa S. Radio-ulnar synostosis, short stature, microcephaly, scoliosis and mental retardation. Am J Med Genet 1995; 58: 159-60.

22. Jaffer Z, Nelson M, Beighton P. Bone fusion in the fetal alcohol syndrome. J Bone Joint Surg 1981; 63: 569-71.

23. Cleveland WW, Arias D, Smith GF. Radioulnar synostosis, behavioral disturbance, and XYY chromosomes. J Pediatr 1969; 74: 103-6.

24. Franceschini P, Licata D, Guala A, Di Cara G, Franceschini D. Radioulnar synostosis an XYY syndrome. Clin Dysmorphol 2000; 9: 77.

25. Das GP, Shukla A, Verma IC. Phenotype 49, XXYYY. Clin Genet 1993; 43: 196-99.

26. James C, Robson L, Jackson J, Smith A. 46, XY/47, XYY/48, XYYY karyotype in a 3 year old boy ascertained because of radioulnar synostosis. Am J Med Genet 1995; 56: 389-92.

27. Mazauric S, Kordt G, Brodersen D. T aneuploidy: a further case of a male patient with a 48, XYYY karyotype and literature review. Ann Genet 1992; 35: 237-40.

28. Turner B, Dulk GM, Watkins G. The XXXY syndrome. Med J Aust 1963; 2: 715-16.

29. Thompson A, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nature Genet 2000; 26: 397-98.

30. Clearly JE, Omer GE. Congenital proximal radio-ulnar synostosis. Natural history and functional assessment. J Bone Joint Surg 1985; 67: 539-45.

31. Ojino T, Hikino K. congenital radio-ulnar synostosis: compensatory rotation. J Hand Surg (Br) 1987; 12: 173-8.

32. Uchida Y, Yoichi S. Electrodiagnosis of Martin-Gruber connection and its clinical important in peripheral nerve surgery. J Hand Surg 1992; 17: 54-59.

33. Oswald TA. Anatomic considerations in evaluation of the proximal ulnar nerve. Phys Med Rehabil Clin N Am 1998; 9: 777-789.

34. Dawson HG. A congenital deformity of the forearm and its operative treatment. Br Med J 1912; 2: 83-5.

35. Khalil I, Vizkelety T. Osteotomy of the synostosis mass for the treatment of congenital synostosis. Arch Orthop trauma Surg 1993; 113: 20-2.

36. Kelikian H, Doumanian A. Swivel for proximal radioulnar synostosis. J Bone Joint Surg 1957; 39: 945-52.

37. Green WT, Mital MA. Congenital radio-ulnar synostosis: Surgical treatment. J Bone Joint Surg 1979; 61: 738-74.

38. Bolano LE. Congenital proximal radioulnar synostosis: treatment with the Ilizarov method. J Hand Surg Am 1994; 19: 977-8.

39. Muramatsu K, Ihara K, Shigetomi M, Kimura K, Kurokawa Y, Kawai S. Radioulnar synostosis treated with a free vascularized fat transplant and dynamic splint: a report of two cases. J Orthop Trauma 2004; 18: 48-52.

40. Kanaya F. Mobilization of a congenital proximal radioulnar synostosis with use of a free vascularized fascio-fat graft. A technical detail. Tech Hand Upper Extremity Surg 1997; 1: 183-8.

41. Hankin FM, Smith PA, Kling TF, Louis DS. Ulnar nerve palsy following rotational osteotomy of congenital radioulnar synostosis. J Pediatr Ortho 1987; 7: 103-6.

42. Vince KG, Miller JE. Cross-union complicating fracture of the forearm. J Bone Joint Surg 1987; 69: 640-53.