A rare case of pycnodysostosis during pregnancy

Abstract

Abstract We describe a case in which a 41‐year‐old pregnant female with pycnodysostosis presented for elective cesarean section at week 37 + 5 of pregnancy. This is the first reported case of pycnodysostosis during pregnancy in Oman, to the author's best knowledge.

Keywords

• cathepsin K
• defective gene
• dwarfisms
• lysosomal storage disease
• pycnodysostosis