A rare cause of aortic stenosis in a sibling – Morquio syndrome – Case report

Abstract

Morquio syndrome is an uncommon variant of autosomal recessive disorder caused by the deficiency of N acetyl galactosamine 6 sulfatase (GALNS) – a lysosomal enzyme, causing dental, cardiac and skeletal abnormalities. A male patient, 29 years of age came with complaints of difficulty in breathing since one month. He was born of a second degree consanguineous marriage and has no mental retardation.