Publication:

Van Buchem disease: a rare case report

Van Buchem disease, or hyperostosis corticalis generalisata, is a autosomal recessive skeletal disease which is characterized by uninhibited bone growth, especially in mandible, skull and ribs. It is a rare disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of skeleton leading to a variety of neurological symptoms. We are reporting a case of 15-year-old female child presented with short stature and dysmorphic facies along with progressive vision loss since 3-4 years.