Endocrinological Manifestations of Sanjad-Sakati Syndrome
Masharib Bashar, Muhammad Taimur, Fnu Amreek, Khalid A Sayeed, Amber Tahir
Abstract
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is a very rare genetic disorder with an autosomal recessive mode of inheritance, mostly seen in children of Middle Eastern origin. Hypoparathyroidism remains the most characteristic endocrinological feature of SSS; but not the only one. This review outlines and elucidates other endocrinological manifestations that may be seen with this syndrome.
Topics & Concepts
MedicineHypoparathyroidismSSS*PediatricsEndocrinologyInternal medicineCongenital heart defects researchCongenital Heart Disease StudiesCardiovascular Function and Risk Factors