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2014, Number 4

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Acta Pediatr Mex 2014; 35 (4)

Myelomeningocele and oculo-auriculovertebral spectrum, coincidental entities in a patient

Villarroel-Cortés C, Rojas-Maruri CM

Language: Spanish
References: 16
Page: 309-315
PDF size: 467.57 Kb.


Text Extraction

No abstract.


REFERENCES

  1. Hunter AG. Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs. CMAJ 2002;167:367-72.

  2. Del Castillo V, González-Del Ángel A. Abordaje del paciente dismorfológico. En: Genética Clínica. Ciudad de México: Manual Moderno, 2012; pp. 95-9.

  3. Devriendt K, de Smet L, Casteels I. Oculo-auriculo-vertebral spectrum. En: Management of genetic syndromes. 3a ed. New Jersey: Jhon Wiley and Sons, 2010; pp. 587-96.

  4. Engiz O, Balci S, Unsal M, Ozer S, Oguz KK, Aktas D. 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns 2007;18:277-88.

  5. Warburg M. Update of sporadic microphthalmos and coloboma. Non inherited anomalies. Ophthalmic Paediatr Genet 1992;13:111-22.

  6. Pachajoa HM, Saldarriaga W, Isaza C. Un caso de espectro oculoauriculovertebral con meningocele occipital. MedUNAB 2006;9:164-7.

  7. Gimelli S, Couco C, Ronchetto P, Gimelli G, Tassano E. Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia. J Appl Genet 2013;54:361-5.

  8. Rooryck C, Souakri N, Cailley D, Bouron J, Goizet C, Delrue MA, et al. Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum. 2010. Am J Med Genet Part A 2010;152A:1984-9.

  9. Buccimaza S, Molteno C, Dunne T. Preschool follow-up of a cohort of children with myelomeningocele in Cape Town, South Africa. Ann Trop Paediatr 1999;19:245-52.

  10. Rollnick BR. Oculoauriculovertebral anomaly: variability and causal heterogeneity. Am J Med Genet 1988;4:41-53.

  11. Poswillo D. The Pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol 1973;35:302-28.

  12. Canún-Serrano S, Reyes-Pablo AE, Sánchez-Sánchez M, Jaime-Gómez L, Centeno-Morones FJ, Falcón-Bernal I, et al. Periconceptional use of folic acid in health centers of the territorial sanitary jurisdiction of Tlalpan, Mexico City. Gac Med Mex 2009;145:115-20.

  13. Bonati-Pellié C, Smith C. Risk tables for genetic counseling in some common congenital malformations. J Med Genet 1974;11:374-7.

  14. D´Alessandro L, Kovesi T, Massoud S, Lougheed J, Hunter A, Reisman J. Horseshoe lung and facio-auriculo-vertebral sequence: a previously unreported association. Pediatr Pulmonol 2006;41:592-6.

  15. Hattori Y, Tanaka M, Matsumoto T, Uehara K, Ueno K, Miwegishi K, et al. Prenatal diagnosis of hemifacial microsomia by magnetic resonance imaging. J Perinat Med 2005;33:69-71.

  16. Stewart C, Stewart M, Stewart F. Microgastria-limb reduction anomaly with total amelia. Clin Dysmorphol 2002;11:187-90.




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