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Boletín médico del Hospital Infantil de México

versión impresa ISSN 1665-1146

Resumen

GOMEZ-VALENCIA, Luis et al. Clinic and genetic study of Moebius syndrome. Bol. Med. Hosp. Infant. Mex. [online]. 2008, vol.65, n.5, pp. 353-357. ISSN 1665-1146.

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.

Palabras llave : Facial paralysis; hereditary diseases; Moebius syndrome; facial expression; face, inexpressiveness.

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