Aviña FJ, Ornelas SM, Montes GS, Partida RA

Language: Spanish
References: 17
Page: 335-338
PDF size: 145.86 Kb.

ABSTRACT

A clinical case of an infant with Freeman-Sheldon syndrome, corresponding to a congenital arthro-gryposis multiple with a peculiar aspect of “whistling boy” and multiple orthopedic malfor-mations. The patient presents exceptional severity of the classic clinical manifestations of this pathology. It is the first case reported in Mexico of this rare disease. Analysis of the high risks in surgery and anesthesia of these patients and the review of the new anesthetic techniques used in Japan and North America are described.

REFERENCES

1. Freeman E, Sheldon JH. Cranio-carpotarsal dystrophy: undescribed congenital malformation. Arch Dis Child 1938;13:277-283.

2. 2. Krakowiak PA, O’Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, Bamshad M. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet 1997;60:426-432.

3. 3. Wang TR. Further evidence for genetic heterogeneity of whistling face of Freeman-Sheldon syndrome in a Chinese family. Am J Med Genet 1998;38:456-459.

4. 4. Carakushansky G, Paiva IS, Kahn E, Ribeiro MG. Recessive type of Freeman-Sheldon syndrome. Report of two affected siblings. J Pediatr Rio J 2001; 77:425-430.

5. 5. Estrada SM, Cabrera AL, Virreyes EI, Ferrándiz GS, Ortiz CE. Síndrome de Freeman-Sheldon. Revisión bibliográfica. Rev Cubana Pediatr 2001;73:230-235.

6. 6. Bonioli E, Bellini C, Rufa G. Freeman-Sheldon syndrome. Description of 2 cases of probable recessive autosomal inheritance. Minerva Pediatr 1999;38:143-149.

7. 7. Parisi G, Molino O. Freeman-Sheldon syndrome. Case contribution and review of the literature. Minerva Pediatr 1999;43:653-659.

8. 8. Alves AF. Reccesive form of Freeman-Sheldon syndrome or “whistling face”. J Med Genet 1999;14:39-41.

9. 9. Torres FP, Oliveira V, Palha JC, Almada A, Reis Lima M, Veloso P. Freeman-Sheldon syndrome. A case report. Acta Pediatr Port 1995;26:209-211.

10. Suanes CA, Espino AR, Gil RR, De la Torre CM, Martínez AJ, Nicolau CJ, Romanos LA. Freman-Sheldon syndrome. A case report. An Esp Pediatr 1991;34:247-249.

11. Namiki M, Kawamata T, Yamakage M, Matsuno A, Namiki A. Anesthetic management of a patient with Freeman-Sheldon syndrome. Masui 2000;49:901-902.

12. Calderón JA, Taoube KA. Síndrome de Freeman-Sheldon: manifestaciones clínicas y manejo anestésico y quirúrgico. An Pediatr 2002;56:175-179.

13. Cruickshanks GF, Brown S, Chitayat D. Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway. Can J Anaesth 1999;46:783-787.

14. Munro HM, Butler PJ, Washington EJ. Freeman-Sheldon (whistling face) syndrome. Anaesthetic and airway management. Paediatr Anaesth 1997;7:345-348.

15. Vas L, Naregal P. Anaesthetic management of a patient with Freeman-Sheldon syndrome. Paediatr Anaesth 1998;8:175-177.

16. Nimiki M, Kawamata T, Yamakage M, Matsumo A, Namiki A. Anesthetic management of a patient with Freeman-Sheldon syndrome. Masui 2000;49:901-902.

17. Okawa M, Kinouchi K, Kitamura S, Taniguchi A, Sasaoka N, Fukumitsu K. Anesthetic management of an infant with Freeman-Sheldon syndrome. Masui 2002;51:659-662.