Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome is a rare X-linked recessive disorder of pre- and postnatal overgrowth syndrome represented by mild to severe intellectual disability , anomalies of the musculoskeletal system, cardiovascular system, central nervous system, renal and gastrointestinal tract were observed .

Clinical presentation

Simpson-Golabi-Behmel syndrome is characterized by:

  • polyhydramnios 
  • neonatal recurrent hypoglycemia  
  • facial deformities, including cleft lip and palate , macrostomia, macroglossia and dental malocclusion  
  • hepatosplenomegaly
  • multicystic dysplasia of kidneys
  • malrotation of bowel loops
  • Meckel diverticulum
  • congenital heart defects
  • supernumerary nipples
  • umbilical and diaphragmatic hernias.
  • skeletal manifestations, such as congenital C2–C3 vertebral fusion and cervical ribs .

Like other overgrowth disorders, there is an increased risk of Wilms tumor , adrenal neuroblastoma , gonadoblastomas, hepatoblastomas and acute lymphoblastic leukemia .

Pathology

Simpson-Golabi-Behmel syndrome is caused by loss of function mutation in the (glypican-3) CPC3 gene , and in some cases CPC4, that eventually leads to overgrowth disorder and multiple malignancies .

Differential diagnosis

Differential diagnosis includes :

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