Case Report

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

Figure 1

(a) Broad and radially angulated thumbs. (b) Broad halluces. (c) Bulbous nasal tip, a columella hanging below the alae nasi, and a pouting lower lip. The two paramedian rounded areas in the lower lip are vermilion elevations with no fistulae. (d) Bifid tip of the tongue.