Pycnodysostosis (PYCD) is a rare autosomal recessive skeletal dysplasia, due to a defect in the gene encoding cathepsin K, and characterized by short stature (SS), osteosclerosis, acro-osteolysis, skull deformities, and bone fragility. Although SS is characteristic in PYCD, GH deficiency has been reported only in some cases. We present two isolated cases, with typical clinical-radiological pictures. Case 1: a 9 year-old boy, offspring of consanguineous parents, presenting SS, osteosclerosis, bone fragility, bilateral ocular proptosis, frontal bossing, brachycephaly, wide cranial sutures, […]