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Clinical presentation photographs. Consent for publication was obtained in all cases. (a) Case 1, ascertained in Toronto, Canada (newborn, left panel; at age 23 months, right panel). (b) Case 2, ascertained in Edinburgh, UK. Detail of left eye abnormalities shown (lower panel). (c) Case 3, ascertained in Leiden, The Netherlands. (d) Case 4, ascertained in Toronto, Canada, at age 11 (top panels). Details of ears are shown (bottom panels).
