Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

O'Grady, G. L., Ma, A., Sival, D., Wong, M. T. Y., Peduto, T., Menezes, M. P., Young, H., Waddell, L., Ghaoui, R., Needham, M., Lek, M., North, K. N., MacArthur, D. G., van Ravenswaaij-Arts, C. M. A. & Clarke, N. F., Aug-2016, In : European Journal of Human Genetics. 24, 8, p. 1216-1219 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Copy link to clipboard


  • Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7

    Final publisher's version, 484 KB, PDF document

    Request copy


CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, visual impairment and intellectual disability. Less severe forms of CHD7-related disease are known to exist, but the full spectrum of phenotypes remains uncertain. We identified a de novo missense variant in CHD7 in a family presenting with musculoskeletal abnormalities as the main manifestation of CHD7-related disease, representing a new phenotype. The proband presented with prominent scapulae, mild shoulder girdle weakness and only subtle dysmorphic features. Investigation revealed hypoplasia of the trapezius and sternocleidomastoid muscles and semicircular canal defects, but he did not fulfill diagnostic criteria for CHARGE syndrome. Although the shoulders are often sloping and anteverted in CHARGE syndrome, the underlying neuromuscular cause has never been investigated. This report expands the phenotypes associated with CHD7 mutations to include a musculoskeletal presentation, with hypoplasia of the shoulder and neck muscles. CHD7 should be considered in patients presenting in childhood with stable scapular winging, particularly if accompanied by dysmorphic features and balance difficulties.

Original languageEnglish
Pages (from-to)1216-1219
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number8
Early online date27-Jan-2016
Publication statusPublished - Aug-2016



ID: 34534362