"Simpson-Golabi-Behmel syndrome is a rare X-linked recessive disorder of pre- and postnatal overgrowth syndrome represented by mild to severe intellectual disability 3,7, anomalies of the musculoskeletal system, cardiovascular system, central nervous system, renal and gastrointestinal tract were observed 11."
"umbilical and diaphragmatic hernias 1,3,5."
"skeletal manifestations, such as congenital C2–C3 vertebral fusion and cervical ribs 4."
"skeletal manifestations, such as congenital C2–C3 vertebral fusion and cervical ribs 4."
"Meckel diverticulum"
"Simpson-Golabi-Behmel syndrome is caused by loss of function mutation in the (glypican-3) CPC3 gene 8, and in some cases CPC4, that eventually leads to overgrowth disorder and multiple malignancies 2,5,7."
"Simpson-Golabi-Behmel syndrome is a rare X-linked recessive disorder of pre- and postnatal overgrowth syndrome represented by mild to severe intellectual disability 3,7, anomalies of the musculoskeletal system, cardiovascular system, central nervous system, renal and gastrointestinal tract were observed 11."
"facial deformities, including cleft lip and palate 9, macrostomia, macroglossia and dental malocclusion 12"
"Like other overgrowth disorders, there is an increased risk of Wilms tumour 18, adrenal neuroblastoma 17, gonadoblastomas, hepatoblastomas 19 and acute lymphoblastic leukaemia 2,3,8."