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Boletín Médico del Hospital Infantil de México

2008, Number 5

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Bol Med Hosp Infant Mex 2008; 65 (5)

Clinic and genetic study of Moebius syndrome

Gómez-Valencia L, Morales-Hernández A, Cornelio-García RM, Toledo-Ocampo E, Briceño-González MR, Rivera-Angles MM

Language: Spanish
References: 21
Page: 353-357
PDF size: 132.08 Kb.


ABSTRACT

Introduction. Objective: to analyze the fundamental clinical manifestations of the Moebius syndrome, and the genetic factors related to this pathology.
Methods. In a retrospective descriptive study the clinical data and familiar anamnesis of 23 cases of girls and boys with Moebius syndrome attended in Children’s Hospital of Villahermosa, Tabasco over the last 20 years, were analyzed. The criteria for the diagnosis were done on the basis of clinical manifestations, which included face inexpressiveness, alteration of the suction, and incomplete palpebral closure with partial or non-lateral vision.
Results. Face inexpressiveness, palpebral ptosis, big auricular pavilions and microglossia were the most representative clinical data. Two patients had Poland sequence in association to this pathology. Chromosomal analysis of the 11 cases showed normality in number and structure. All the studied patients represented sporadic cases.
Conclusion. An early diagnosis of Moebius syndrome favors an optimal patient management as well as an opportune genetic counseling.


REFERENCES

  1. Cronemberger MF, de Castro-Moreira JB, Brunoni D. Ocular and clinical manifestations of Moebius syndrome. J Pediatr Ophthalmol Strabismus. 2001; 38: 156-62.

  2. Villafranca AJ, Castillo DP, Garcés SM, Villalón FE, Grez LE, Díaz GA. Síndrome de Moebius. Rev Chilena Cir. 2003; 55: 75-80.

  3. Terzis JK, Noah EM. Dynamic restoration in Moebius and Moebius-like patients. Plast Reconstr Surg. 2003; 111: 40-55.

  4. Barba PSA, Camacho PMA, Ramírez AC, Cano JGZ, Ávila FF. Parálisis facial congénita. Reporte de un caso. An Radiol Mex. 2006; 4: 337-43.

  5. Stromland K, Sjogreen L, Millar M. Moebius sequence: a Swedish multidiscipline study. Eur J Paediatr Neurol. 2002; 6: 35-45.

  6. Momtchilova M, Pelosse B, Rocher F, Renault F, Laroche L. Moebius syndrome: ocular and clinical manifestations. J Fr Ophtalmol. 2007; 30: 177-82.

  7. Verzil HT, van der Zwaag B, Cruysberg JR, Padberg GW. Moebius syndrome redefined: a syndrome of rhombencephalic mal development. Neurology. 2003; 61: 327-33.

  8. Dooley JM, Stewart WA, Hayden JD, Therrien A. Brainstem calcification in Moebius syndrome. Pediatr Neurol. 2004; 30: 39-41.

  9. Miller MT, Strömland K, Ventura L, Johansson M, Bandim JM, Gillberg C. Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review. Int J Dev Neurosci. 2005; 23: 201-19.

  10. Issaivanan M, Virdi VS, Parmar VR. Subclavian artery supply disruption sequence Klippel-Feil and Moebius anomalies. Indian J Pediatr. 2002; 69: 441-2.

  11. Yeh PC, Kipp MA. A case of Moebius syndrome in association with klinefelter syndrome. Ophthalmic Genet. 2002; 23: 185-9.

  12. Verloes A, Bitoun P, Heuskin A. Moebius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome. Am J Med Genet. 2004; 127: 294-7.

  13. Felice KJ, Jones JM, Conway SR. Facioscapulaohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family. Muscle Nerve. 2005; 32: 368-72.

  14. Da Silva, dal Pizzol T, Knop FP. Prenatal exposure to misoprostol and congenital anomalies: systematic review and meta-analysis. Reprod Toxicol. 2006; 22: 666-71.

  15. Marques-Díaz MJ, González CH, Rosemberg S. Moebius sequence in children exposed in utero to misoprostol: neuropathological study of three cases. Birth Defects Res A Clin Mol Teratol. 2003; 67: 1002-7.

  16. Sánchez O, Guerra D. Moebius syndrome due to the use of misoprostol. Case report. Invest Clin. 2003; 44: 147-53.

  17. McKusick VA. Moebius syndrome. Online Mendelian inheritance in man. 2003. Disponible en: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157900.

  18. Becker CF, Lund HT. A family with Moebius syndrome. J Pediatr. 1974; 84: 115-7.

  19. Ziter FA, Wiser WC, Robinson A. Three generation pedigree of a Moebius syndrome variant with chromosome translocation. Arch Neurol. 1977; 34: 437-42.

  20. Johansson M, Wentz E, Fermell E. Austistic spectrum disorders in Moebius sequence: a comprehensive study of 25 individuals. Dev Med Child Neurol. 2001; 43: 338-45.

  21. Hedges DW, Jeppson KG, Burns C. Twenty-year behavioral follow-up of a 1;13 chromosomal translocation and Moebius syndrome presenting with poor impulse control, exhibitionism, and aggression. Compr Psychiatry. 2003; 44: 462-5.




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