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Article

Atypical facet of Möbius syndrome: association with facioscapulohumeral muscular dystrophy.

Muscle & nerve - 1 Apr 2008

Kolski Hanna K, Leonard Norma J, Lemmers Richard J L F, Bamforth John S

Abstract excerpt

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...

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Identifiers

PMID: 18059038
DOI: 10.1002/mus.20941

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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