1Senior Registrar, Endocrinology, 2Consultant Endocrinologist, 3Consultant Radiologist, 4Senior Registrar, Orthopedic, 5Consultant Orthopedic Surgeon, 6Consultant Histo Pathologist, National Hospital of Sri Lanka. Figure 1. Xray skull – lateral. Figure 2. Histology of the bone biopsy shows mature thick cortical lamellar bone with regular prominent cement lines (thick arrow) with prominent osteo...

We report the case of a 28-year-old female with progressive diaphyseal dysplasia, who presented with history of a similar neuromuscular condition. Clinical, radiological and molecular data confirmed Camurati-Engelmann Disease (CED). This is the first Romanian family who was diagnosed with CED.

Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angi...

1Resident Physician at Hospital Estadual Vila Alpina/Diagnostic Imaging Service II, associated with the Luiz Roberto Barata Barradas Specialist Medical Outpatient Clinic (AME), São Paulo, SP, Brazil 2Resident Physician at Hospital A.C.Camargo Cancer Center, São Paulo, SP, Brazil 3Orthopedist, Prefeitura Municipal de Barueri, Barueri, SP, Brazil 4Supervising Physician at the Continuing Education...