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Revista Mexicana de Pediatría

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2005, Number 5

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Rev Mex Pediatr 2005; 72 (5)

Meckel Gruber´s syndrome. A case report

García MAM, Juárez AA, Durán PMA, Islas DLP, Valdés MJM
Full text How to cite this article

Language: Spanish
References: 5
Page: 240-242
PDF size: 133.06 Kb.


Key words:

Meckel-Gruber's syndrome, congenital malformations, autosomal recessive.

ABSTRACT

The Meckel-Gruber’s syndrome is a rare genetic organization, usually letal. It is an inherited autosomal recessive syndrome characterized by congenital malformations: occipital encephalocele, polycystic kidney and polydactylism. A case of a stillbirth female is reported.


REFERENCES

  1. Wiedemann HR, Kunze J. Clinical Syndromes. 3th edition. Milan: Mosby-Wolfe. 1998: 92-3.

  2. Taeusch HW, Ballard RA. Avery’s diseases of the newborn. 7th Edition. Saunders Co. 1998: 222.

  3. Rennie JM. Textbook of neonatology. 3th edition. Hong Kong: Churchill-Livingstone. 2000; 876: 1300-1301.

  4. Avellaneda A, Izquierdo M. Síndrome de Meckel-Gruber. Descripción en lenguaje coloquial. 2004.

  5. Simpson JL, Mills J, Rhoads G, Conmugham CC, Conley MR, Hoffman HJ. Genetic heterogeneity in neural tube defects. Ann Genet 1991; 34: 279-86.




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C?MO CITAR (Vancouver)

Rev Mex Pediatr. 2005;72