Figure 1

Clinical findings in Simpson-Golabi-Behmel syndrome. A and B: Facial phenotype. Note the cleft lip, coarse, square face and broad nose. C and D: extra-nipple in a carrier mother and a toddler. E, F and G: close up of the mouth of three different patients. Note the large tongue, middle groove in the tongue, teeth malposition and repaired cleft (in G). H and J: Hands. Note broad hands and polydactyly in one subject. I: Deep plantar creases. K: abnormal genitalia in a male with hypospadias and proximal anal placement. Written informed consent was obtained from the parents of the patients for publication of their photographs.