medigraphic.com
SPANISH

Revista Cubana de Obstetricia y Ginecología

ISSN 1561-3062 (Electronic)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2014, Number 2

<< Back Next >>

Revista Cubana de Obstetricia y Ginecología 2014; 40 (2)

Meckel syndrome with omphalocele and cleft lip

Medina ML, Saldarriaga W, Isaza C, Pachajoa H
Full text How to cite this article

Language: Spanish
References: 9
Page: 272-278
PDF size: 185.18 Kb.


Key words:

birth defect, polydactyly, encephalocele.

ABSTRACT

The Meckel Gruber syndrome is a lethal, rare and autosomal disorder. It is characterized by multiple malformations, among these the triad of occipital encephalocoele, large polycystic kidneys and post-axial polydactyly. A case with multiple malformations, including the less frequent as omphalocele, hypospadias and cleft lip is presented.


REFERENCES

  1. Dawe Helen R, Smith Ursula M, Cullinane Andrew R, Gerrelli Dianne, Cox Phillip, Jose L, et al. The MeckelGruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Human Molecular Genetics. 2007;16(2):173-86.

  2. Alam A, Adhi M, Bano R, Zubair A, Mushtaq A. Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage. Pak J Med Sci. 2013;29(1):234-6.

  3. Chih-Ping Chen. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwanese J Obstet Gynecol. 2007;46(1):9-14.

  4. Salvador J, Casas J. Catálogo de síndromes polimalformativos congénitos con anomalías oculares. Instituto Municipal de Salud PÚblica Ayuntamiento de Barcelona: Información Sanitaria. p. 98-99.

  5. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med. 2011;364(16):1533-43.

  6. Myageri A, Grampurohit V, Rao R. Meckel gruber syndrome: report of two cases with review of literature. J Family Med Prim Care. 2013;2(1):106-8.

  7. García Morales AM, Juárez Azpilcueta A, Durán Padilla MA, Islas Domínguez LP, Valdés Miranda JM. Síndrome de Meckel-Gruber: Reporte de un caso de autopsia. Rev Mex Pediatr. 2005;72(5):240-2.

  8. Hennekam Krantz I, Allanson J. Gorlin's Syndromes of the Head and Neck. Fifth Edition. New York: Oxford University Press; 2010.

  9. Jha T, Bardhan J, Das B, Patra KK, Dhali B, Seth S. Meckel-Gruber syndrome: a rare clinical entity. J Indian Med Assoc. 2010;108(9):611-2.




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Revista Cubana de Obstetricia y Ginecología. 2014;40