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2004, Number 5

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Rev Mex Pediatr 2004; 71 (5)

Langer-Giedion syndrome. A case report

Aviña FJA, Ornelas SM, Rosas BE
Full text How to cite this article

Language: Spanish
References: 11
Page: 237-239
PDF size: 61.89 Kb.


Key words:

Langer-Giedion syndrome, tricho-rhino-phalangeal syndrome, congenital malformations.

ABSTRACT

Se presenta el caso de un lactante con dismorfia facial, braquidactilia y alteraciones en las extremidades, sugestivas de un síndrome tricorrinofalángico, que correspondió al tipo II. Se hace una descripción detallada y el análisis de las malformaciones somáticas y ortopédicas de este síndrome, poco frecuente, llamado de Langer-Giedion.


REFERENCES

  1. Giedion A. The tricho-rhino-phalangeal syndrome. Helv Pediatr Acta 1966; 21: 475-85.

  2. Langer LO Jr, Krasikoff N, Laxova R et al: The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome). Am J Med Genet 1984; 19: 81-112.

  3. Ludecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE et al. Molecular dissection of a contiguous gene syndrome: localization of the genes envolved in the Langer-Giedion syndrome. Hum Molec Genet 1995; 4: 31-36.

  4. Hilton MJ, Gutierrez L, Zhang L, Moreno PA, Reddy M et al. An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome. Genomics 2001; 71: 192-199.

  5. Fontaine G, Maroteaux P, Farriaux JP, Richard J, Roelens B. The tricho-rhino-phalangeal syndrome. Arch Fr Pediatr 1970; 27: 635-647.

  6. Cottin S, Le Gall G, Lorgeas JM. Tricho-rhino-phalangeal syndrome. Four family cases. Rev Rhum Mal Osteoartic 1980; 47: 169-173.

  7. Lambie L, de Ravel TJ. Trichorhino-phalangeal syndrome type II: case report. East Afr Med J 2000; 77: 57-59.

  8. Gassel F, Gassel S, Perlick L, Schmitt O. Orthopeadic considerations of trichorhinophalangeal syndrome type II. Klin Padiatr 2001; 213: 334-337.

  9. Lievre JA, Camus JP. The tricho-rhino-phalangeal syndrome (2 cases). Rev Rhum Mal Osteoartic 1970; 37: 437-441.

  10. Hilton MJ, Sawyer JM, Gutierrez L, Hogart A, Kung TC, Wells DE. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet 2002; 47: 103-106.

  11. Sanchis A. Síndrome de Langer-Giedion. An Esp Pediatr 1996; 45: 110.




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C?MO CITAR (Vancouver)

Rev Mex Pediatr. 2004;71