Figure 1.
Face, hand, and feet and composite photographs
(A) Facial photographs of individuals 1, 2, 3, 4, and 5 showing horizontal eyebrows, short nose, and full cheeks.
(B) Composite image of individuals with DDB1 variants showing key distinctive features of horizontal eyebrows, short nose, full cheeks, and large ear lobes.
(C) Photograph of hand in individual 2 showing brachydactyly and proximally placed thumb. Photograph of feet in individuals 2 and 4 showing syndactyly and brachydactyly.