Fig. 2.

Patient 2: ( A – C ) patient 2 at 4 months ( A ) and 18 months of age ( B and C ) with a small pointed nose, smooth philtrum, and thin upper lip. Note absent thumbs and short bent left forearm (thin black arrowhead). Note the poikilodermatous skin lesions over the face (thick white arrowhead) and extensor aspects of the forearms (thick black arrowhead). ( D ) Sanger sequencing of the variant, c.1132–2A > G, IVS5–2A > G, detected in intron 5 in a homozygous state. The forward reference sequence is shown on the top line, with lower-case letters belonging to intronic and upper-case letters to exonic sequence. The peaks were obtained from sequencing of the reverse strand.