Simpson-Golabi-Behmel syndrome types I and II

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number of individuals with normal intelligence.

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.