Publication: Anomalía de Möebius y el concepto de secuencia malformativa: Importancia del conocimiento y uso adecuado de la terminología
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2003-10
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Martínez-Frías, María Luisa ISCIII
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Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
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Abstract
A review of the literature shows that a large variety of terms is used to refer to the Möebius anomaly. These include diagnoses such as "Möebius syndrome", "Möebius sequence", "Möebius spectrum", "Möebius syndrome-limb abnormalities" "Möebius sequence-hypogeni- talism-cerebral, and skeletal malformations" and even three types of syndromes numbered "Möebius syndrome 1, 2 and 3", with different chromosomal loci. The Möebius anomaly is believed to comprise paralyses of some cranial nerves and their consequences. Thus, based in the concepts delineated by an International Working Group regarding errors of morphogenesis [Spranger y cols., 1982. J Pediatr 100:160-165], it constitutes a sequence: the "Möebius sequence." As such, it may be observed in different types of malformed infants, whether isolated (with only the Möebius sequence), with multiple congenital anomalies (MCA) patterns, or with different types of syndromes. That is, in multiple clinical presentations with different causes. It is important to keep these concepts in mind, because the term "syndrome" means that all affected infants will have similar characteristics, generally the same cause, and the same recurrence risk. If we do not use the current dysmorphological concepts, the information given to the family may be confuse or, what is worse, erroneous.
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Dismorfología, Citogenética y Clínica: Resultados sobre los datos del ECEMC
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Boletín del ECEMC: Rev Dismor Epidemiol 2003; V (nº 2): 4-10