Atypical facet of Möbius syndrome: Association with facioscapulohumeral muscular dystrophy

We describe a patient with facioscapulohumeral muscular dystrophy (FSHD) associated with Mobius syndrome and congenital ophthalmoplegia. This 7-year-old girl had profound limitation of extraocular movements since birth, congenital facial diplegia, neonatal hypotonia, and progressive limb-girdle weakness. FSHD genetic testing revealed a pathogenic haplotype with a D4Z4 repeat of 30 kb. The father carries the same allele, although is minimally affected. This unusual case expands the genotypic–phenotypic spectrum of FSHD. Muscle Nerve, 2007