Escobar Syndrome in Three Patients of Two Unrelated Families

Abstract

“Escobar syndrome” or “multiple pterygium syndrome” is a very rare disorder. It is characterized by congenital contractures (arthrogryposis), excessive webbing (pterygia) and scoliosis. The diagnosis is generally confirmed after birth, in the neonatal period. We describe three individuals, from two consanguineous Algerian families, affected by this syndrome. The genetic defect is a mutation of the foetal subunit of Acetyl Choline receptor.