Mobius Syndrome and Facioscapulohumeral Muscular Dystrophy

Abstract

CONGENITAL facial diplegia, or Möbius syndrome, is usually considered to be a static disorder. Recently, however, there have been reports of myotonic dystrophy presenting with facial weakness in the newborn period.^1,2; some cases of Möbius syndrome may therefore be due to progressive disease. We recently encountered three children diagnosed originally as Möbius syndrome but with a progressive myopathy resembling facioscapulohumeral (FSH) dystrophy, an association not previously delineated. <h3>Report of Cases</h3> CASE1.—A female infant was born after normal gestation and delivery and weighed 2,860 gm (6 lb 4 oz). She was bottle-fed but had difficulty sucking. From birth, the mother noticed a lack of facial expression, and the child was unable to close her eyes or mouth fully. Her early development was otherwise normal, and she walked at 14 months. The facial disorder became more conspicuous. At age 9, because of disfiguring progressive pouting of the lips, she