Atypical facet of Möbius syndrome: association with facioscapulohumeral muscular dystrophy.
We describe a patient with facioscapulohumeral muscular dystrophy (FSHD) associated with Möbius 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.
Kolski
Hanna K
HK
Department of Pediatrics, Aberhart Centre 1, University of Alberta, Edmonton, AB, Canada. Hanna.Kolski@capitalhealth.ca
Leonard
Norma J
NJ
Lemmers
Richard J L F
RJ
Bamforth
John S
JS
D000483:Alleles; D015139:Blotting, Southern; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006239:Haplotypes; D006801:Humans; D020331:Mobius Syndrome / Q000175:diagnosis* / Q000235:genetics*; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics*; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree