hrp0095rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Dysosteosclerosis is also caused by null mutations of TNFRSF11A

Kırkgöz Tarık , Ozkan Behzat , Acar Sezer , Hazan Filiz , Ikegawa Shiro , Guo Long

Dysosteosclerosis (DOS) is a rare form of dense bone disease and, short stature, recurrent fractures, optic atrophy, cranial nerve palsy, developmental delay, flattened fingernails, skin related complications, and failure of tooth eruption are the characteristic features of the disease (MIM %224300). Irregular osteosclerosis, flattened diffusely dense vertebral bodies, sclerotic skull, radiolucent sub-metaphyseal portions of the long tubular bones with sclerotic diaphysis are ...