2013, Number 5
Moebius syndrome. Clinical case report
Language: Spanish
References: 10
Page: 584-586
PDF size: 98.80 Kb.
ABSTRACT
Background: Moebius syndrome (MBS) is an infrequent disease, having an incidence of 1 in 10 000 births, mainly characterized by a congenital bilateral facial paralysis due to an agenesia of the sixth and seventh cranial nerves. In addition, orofacial and limb anomalies are frequently found in these patients. The diagnosis is fundamentally based on different clinical manifestations of the disorder.Clinical case: a female newborn with the clinical picture of Moebius syndrome is presented, and genetic or environmental aspects are discussed. Since the use of misoprostol for abortion and inducing uterine activity in combination with NSAIDs, the number of newborns with MBS associated with this drug has increased. Nowadays, either genetic or environmental factors are associated with MBS.
Conclusions: it is necessary that the general and medical community be aware of the risk of teratogenic effects of misoprostol, and the usefulness of genetic counseling whenever there is a newborn with Moebius syndrome.
REFERENCES
Gómez-Valencia L, Morales-Hernández A, Cornelio- García RM, Toledo-Ocampo E, Briceño-González MR, Rivera-Ángeles MM. Estudio clínico y genético del síndrome de Moebius. Bol Med Hosp Infant Mex. 2008;65:353-7. Texto libre: http://www.scielo. org.mx/scielo.php?script=sci_arttext&pid=S1665 -11462008000500004
Van der Zwaag B, Verzijl HT, Beltran-Valero BD, Schuster VL, H Van Bokhoven H, Kremer H, et al. Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10. J Med Genet. 2002; 39:30. Texto libre: http://www.ncbi.nlm.nih.gov/pmc/ articles/PMC1735152/