The Möbius Syndrome

Observations on the pathology of the Moebius syndrome

“…Congenital facial diplegia not associated with apparent extraocular palsies does occur in dystrophia myotonica (Parker, 1963), thus demonstrating that at least this portion of the syndrome can have a myopathic basis in certain other disorders. Other clinical arguments that have been advanced for a primary mesodermal defect such as absence of sensory change, the distribution of the facial weakness, and the absence of facial sagging (Richards, 1953) do not appear to be valid, as pointed out by Sprofkin and Hillman (1956). Laboratory evidence supporting this view is limited to altered creatine and creatinine metabolism suggestive of a muscular defect, as reported by Wallis (1960).…”

“…The same rived from somites) and that any changes found in iility was involved in the case the brain-stem are secondary. Lennon (1910), l facial palsy examined by Richards (1953), Evans (1955), and Wallis (1960> ild agree with Richter (1958; seem to be proponents of this view (Table I). The ported by Fenyes (1937) and other theory is that the syndrome is the result of an ly the result of intrapartum ectodermal dysplasia involving primarily the central rain-stem, and are not truly nervous system, and that any associated musculo-)ebius syndrome.…”

“…In none of these reports have the involved cranial nerves (when present) been examined in their extracranial courses, nor are any authors besides Heubner (1900) and Rainy and Fowler (1903), whose case probably does not represent a true congenital defect, known to have examined any of the paralytic musculature. Isolated examinations of involved facial or extra-ocular muscles by biopsies have been reported by several authors (Richards, 1953;Yasuna and Schlezinger, 1955;Reed and Grant, 1957;Van Allen and Blodi, 1960;and Graham, 1964). These authors had no opportunity to examine the brain.…”

MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: New syndrome or familial facial‐limb disruption sequence?

“…With regard to associated malformations, many descriptions have been made of the sporadic association with Poland anomaly or with anomalies of the limbs: syndactyly, adactyly, polydactyly, ectrodactyly, hypoplasia, radial involvement, and defective development of limb muscles [Henderson, 1939;Richards, 1953;Harrison and Parker, 1960;Walsh and Hoyt, 1969;Sugarman and Stark, 1973;Steigner et al, 1975;Herrmann et al, 1976;Rogers et al, 19771. Herrmann et al, [1976] called these associations Poland-Mobius syndrome, but the term has been criticized [Collins and Schimke, 19821.…”

"Estudo de mutações nos genes HOXA1 e HOXB1 em pacientes com síndrome de Moebius"

“…Esta paralisia facial resulta em uma face classicamente descrita como face em máscara com um posicionamento centralizado das pupilas (FEDERMAN;STOOPACK, 1975). Além da diplegia facial e da paralisia do VII par de nervos cranianos, anormalidades das extremidades e do tronco também são achados essenciais (RICHARDS, 1953;BARAITSER, 1977).…”