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Figure 3. Facial features of affected individuals with CLCN4-related disorder in age order. In older males note the elongated face, straight nose and pointed prominent chin that becomes relatively ‘squared off’ with age that is particularly prominent in affected adult males from families A, B, C and F (F:IV:3), and mildly present in the 9-year-old F:V:1 and 12-year-old affected male from family P. A relatively flat midface is noticeable in several individuals (particularly A:III:6 and affected members of family C). Individuals F:IV:3 and F:IV:5 have relative ‘coarsening’ of facial features with age; however, they were both treated with phenytoin, which can coarsen features and F:IV:5 had multiple facial injuries secondary to epileptic drop attacks. Although the facial phenotype is less distinctive in younger children and females (family F:V:1 and F:V2 as infants, and affected individuals from families O, I, L, H, N and M) some similarities include young children having relatively rounded faces and affected females from families H, L and F (F:IV:5) having down-sloping palpebral fissures and depressed nasal bridges. Clinical pictures from family C were first published in Raynaud et al.11 and reproduced from John Wiley & Sons with permission. Image published in: Palmer EE et al. (2018) Copyright © 2018 The Author(s). This image is reproduced with permission of the journal and the copyright holder. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives license Larger Image Printer Friendly View

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