OBJECTIVE The purpose of this study was to determine if the generalized osteosclerosis seen on skeletal radiographs of patients with osteopetrosis is associated with an increase in bone density. SUBJECTS AND METHODS Five children (three girls, two boys, 6-12 years old) with autosomal dominant osteopetrosis who had sustained a fracture with minimal trauma had the density and area of cortical b...

Introduction: Serum Anti endothelial Cell Antibodies (AECAs) play a prominent role in idiopathic Sensorineural Hearing Loss (SNHL) in that they induce vascular damage (immune mediated).The of the current study is  To compare AECAs in serum and perilymphatic .uid of idiopathic SNHL children (<15y) undergoing cochlear implant surgery.Methods: This was a cross sectional study performed in the coch...

A 69-yr-old man with persistent anemia had multiple myeloma with an IgE-type kappa M component and Bence Jones proteinuria. Bone x-rays revealed occasional lytic lesions associated with a diffuse sclerotic reaction throughout the skeleton. Special bone histologic studies utilizing tetracycline labeling, undercalcified sections, and microradiography confirmed active osteoblastic activity. This c...

J.H. Harreld E.C. Smith N.S. Prose P.K. Puri D.P. Barboriak SUMMARY: Trichothiodystrophy (TTD) is a rare group of autosomal recessive disorders of DNA repair unified by the presence of sulfur-deficient brittle hair. We report a 3-year-old boy with classic clinical features of TTD, including ichthyosis, alopecia, developmental delay, and tiger-tail banding of the hair shaft on polarizing microsc...

If left untreated, gout may result in radiographic abnormalities, that is, cartilage loss and periarticular osteopenia plus more-or-less gout-specific radiographic abnormalities: spurs, sclerosis, and periostal new bone formation. In the current issue, Dalbeth and colleagues describe findings from about 800 joints in 20 mostly tophaceous patients, which can help clinicians to identify osteopath...

Q1: What is the diagnosis? The diagnosis is pycnodysostosis, which is a rare form of skeletal dysplasia characterised by moderate and generalised osteosclerosis. The diagnosis is based on clinical features and radiological findings. The cardinal features are short stature, large open fontanelles (the fontanelles may remain open even in adulthood), an obtuse mandibular angle, dysplastic clavicle...