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. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718

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Facial dysmorphic features (a–c) include a markedly long philtrum, thin upper lip and down-turned corners of the mouth. Retinal features are displayed for patient 3 at age 4 years: arteriolar attenuation (d, black arrow), wrinkling of the inner limiting membrane (d, short white arrow and e, black arrows) and pigmentary changes (d, long white arrow). Skeletal features are displayed for patients 1, 3 and 5, respectively: the radiographs show the proximal epiphyses of the femora with symmetric delayed ossification, as well as flattening and irregularity.