Associazione Italiana Sindrome di Costello

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Fonti bibliografiche 

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www.costellokids.org.uk

 

 

Fonti Bibliografiche

  1. Assadi F. K., Charles I, Scott Jr. : Hypercalciuria and urolithias in a case of Costello syndrome. Pediatr Neprhol 1999; 13: 57-59
  2. Berberich M.S. , Carey JC, Hall B.D.: Resolution of the perinatal and infantil failure to thrive in a new autosomal recessive syndrome with the phenotype of a storage disorder and furrowing palmar creases The 11th D.W. Smith Workshop on Malformation and Morphogenesis, Lexington, Kentuky. pg 77
  3. Borochowitz Z., Pavone L, Mazor G: New multiple congenital anomaly: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement  Am J Med Genet 1992; 43: 678-85
  4. Costa T, Eichenfield LF, Krafchik BR: What syndrome is this? Costello syndrome. Pediatr Dermatol. 1994 Sep; 11(3): 277-9    
  5. Costello J.M. : A New Syndrome N.Z.Med J 1971; 74: 397
  6. Costello J.M.: A New Syndrome: mental subnormality and nasal papillomata. Aust Paeditr J 1977; 13: 114-118
  7. Costello JM: Costello syndrome: update on the original cases and commentary [letter]. Am J Med Genet. 1996 Mar 15; 62(2): 199-201
  8. Czeizel AE, Timar L: Hungarian case with Costello syndrome and translocation t(1,22) [letter]. Am J Med Genet. 1995 Jul 3; 57(3): 501-3
  9. Davies SJ, Hughes HE: Costello syndrome: natural history and differential diagnosis of cutis laxa. J Med Genet. 1994 Jun; 31(6): 486-9
  10. Davies SJ, Hughes HE: Cutis laxa: a feature of Costello syndrome [letter; comment]. J Med Genet. 1994 Jan; 31(1): 85
  11. Dearlove O, Harper N: Costello syndrome [letter]. Paediatr Anaesth. 1997; 7(6): 476-7  
  12. Der Kaloustian VM, Moroz B, McIntosh N: Costello syndrome. Am J Med Genet. 1991 Oct 1; 41(1): 69-73
  13. Der-Kaloustian VM: Not a new MCA/MR syndrome but probably Costello syndrome? [letter; comment]. Am J Med Genet. 1993 Aug 15; 47(2): 170-1; discussion 174
  14. Di Rocco M, Gatti R, Gandullia P: Report on two patients with Costello syndrome and sialuria. Am J Med Genet. 1993 Nov 15; 47(7): 1135-40
  15. Feingold M: Costello syndrome and rhabdomyosarcoma [letter]. J Med Genet. 1999 Jul; 36(7): 582-3
  16. Franceschini P, Licata D, Di Cara G: Bladder carcinoma in Costello syndrome: report on a patient born to consaguineous parents and review. Am J Med Genet. 1999 Sep 10; 86(2): 174-9
  17. Fryns JP, Devlieger H, Gewillig M: Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome [letter]. Genet Couns. 1996; 7(3): 237-9
  18. Fryns JP, Vogels A, Haegeman J: Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype. Genet Couns. 1994; 5(4): 337-43
  19. Fukao T, Sakai S, Shimozawa N: Life-threatening cardiac involvement throughout life in a case of Costello syndrome. Clin Genet. 1996 Oct; 50(4): 244-7
  20. FukushimaY. : Noonan syndrome and its related disorders. Acta Paediatr Jpn. 1996 Feb; 38(1): 102-4
  21. Gerald M. Adv Ped 1992; 39: 307-336
  22. Izumikawa Y, Naritomi K, Tohma T: The Costello syndrome: a boy with thick mitral valves and arrhythmias. Jpn J Hum Genet. 1993 Sep; 38(3): 329-34
  23. Johnson J, Golabi m, Norton M: Costello syndrome: Phenotype, natural history, differential diagnosis, and possible cause. J Ped 1998; 133 441-8
  24. Kerr B., Eden O.B., Dandamudi R.: Costello syndrome: two cases with embryonal rhabdomyosarcoma
  25. Khan S, McDowell H, Upadhyaya M : Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. J Med Genet. 1995 ; 32 : 743-5
  26. Kondo I, Tamanaha K, Ashimine K: The Costello syndrome: report of a case and review of the literature. Jpn J Hum Genet. 1993 Dec; 38(4): 433-6
  27. Lugaresi E., Plazzi P. 1998: "I disturbi del sonno" - quaderni di neurofisiologia - M.R. De Feo, O. Maccarelli-Maccarese. Ed. Roma Tre 
  28. Lurie IW: Genetics of the Costello syndrome. Am J Med Genet. 1994 Sep 1; 52(3): 358-9
  29. Martin RA, Jones KL: Delineation of the Costello syndrome. Am J Med Genet. 1991 Dec 1; 41(3): 346-9
  30. Martin RA, Jones KL: Facio-cutaneous-skeletal syndrome is the Costello syndrome [letter; comment]. Am J Med Genet. 1993 Aug 15; 47(2): 169, 73
  31. Mori M, Yamagata T, Mori Y: Elastic fiber degeneration in Costello syndrome. Am J Med Genet. 1996 Feb 2; 61(4): 304-9
  32. Okamoto N, Chiyo H, Imai K: A Japanese patient with the Costello syndrome. Hum Genet. 1994 May; 93(5): 605-6
  33. Patton MA, Baraitser M: Cutis laxa and the Costello syndrome [letter]. J Med Genet. 1993 Jul; 30(7): 622
  34. Philip N, Mancini J: Costello syndrome and facio-cutaneous-skeletal syndrome [letter; comment]. Am J Med Genet. 1993 Aug 15; 47(2): 174-5
  35. Philip N, Sigaudy S: Costello syndrome. J Med Genet. 1998 Mar; 35(3): 238-40
  36. Popa M, Ioan DM, Fryns JP: Costello syndrome: report of an 8-month-old marasmic boy. Genet Couns. 1996; 7(1): 27-30
  37. Power TJ, Radcliffe J: The relationship of play behavior to cognitive ability in developmentally disabled preschoolers. J Autism Dev Disord. 1989 Mar; 19(1): 97-107   
  38. Pratesi R, Santos M, Ferrari I: Costello syndrome in two Brazilian children. J Med Genet. 1998 Jan; 35(1): 54-7
  39. Santini B, Savino F, Ivaldi AP: La nutrizione enterale domiciliare (NED) in età pediatrica. Esperienza del polo di riferimento di Torino. Minerva-Pediatr. 1996 Oct; 48(10): 429-37
  40. Say B, Gucsavas M, Morgan H: The Costello syndrome. Am J Med Genet. 1993 Aug 15; 47(2): 163-5
  41. Siwik ES, Zahka KG, Wiesner GL: Cardiac disease in Costello syndrome. Pediatrics. 1998 Apr; 101(4 Pt 1): 706-9
  42. Suri M, Garrett C: Costello syndrome with acoustic neuroma and cataract. Is the Costello locus linked to neurofibromatosis type 2 on 22q? [letter] Clin Dysmorphol. 1998 Apr; 7(2): 149-51    
  43. Teebi AS, Shaabani IS: Further delineation of Costello syndrome. Am J Med Genet. 1993 Aug 15; 47(2): 166-8
  44. Teebi AS: Costello or facio-cutaneous-skeletal syndrome? [letter; comment]. Am J Med Genet. 1993 Aug 15; 47(2): 172-3; discussion 174
  45. Toguchida J, Yamaguchi T, Dayton SH: Prevalence and spectrum of germline mutation of the p53 gene among patients with sarcomas . N Engl J Med. 1992 ; 326 : 1301-8
  46. Tomita H: An infant with Costello syndrome complicated with fatal hypertrophic obstructive cardiomyopathy. Acta Paediatr Jpn. 1998 Dec; 40(6): 608-11
  47. Torrelo A, Lopez Avila A, Mediero IG: Costello syndrome. J Am Acad Dermatol. 1995 May; 32(5 Pt 2): 904-7
  48. Umans S, Decock P, Fryns JP: Costello syndrome: the natural history of a true postnatal growth retardation syndrome. Genet Couns. 1995; 6(2): 121-5
  49. Van Eghen A. M., van Gelderen I, Hennekam R.C.M. 1999 (82): 187-193
  50. Vila Torres J, Pineda Marfa M, Gonzalez Ensenat MA: Pathology of the elastic tissue of the skin in Costello syndrome. An image analysis study using mathematical morphology. Anal Quant Cytol Histol. 1994 Dec; 16(6): 421-9    
  51. Wieczorek D, Majewski F, Gillessen Kaesbach G: Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. Clin Genet. 1997 Jul; 52(1): 37-46
  52. Yetkin I, Ayvaz G, Arslan M: A case of Costello syndrome with ebdocrine features. Ann Genet. 1998; 41 (3): 157-60
  53. Yoshida R, Fukushima Y, Ohashi H: The Costello syndrome: are nasal papillomata essential? Jpn J Hum Genet. 1993 Dec; 38(4): 437-44
  54. Zampino G, Mastroiacovo P, Ricci R: Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. Am J Med Genet. 1993 Aug 15; 47(2): 176-83

 

 
Aggiornato il: 31 gennaio 2008