INTRODUCTION Involvement of the spinal column in either monostotic or polyostotic form is rare, with fewer than thirty-five cases discussed in the literature. Most of the cases of polyostotic fibrous dysplasia of spine have involvement of the appendicular skeleton. CASE REPORT We report a case of a 74-year-old Irish man with a two month history of back pain. Investigations revealed a diagnosi...

A 65 year old man presented with a two-month history of low back pain and fatigue and urinary symptoms over the preceding month. He was found to have had a hepatomegaly & a large nodular prostate on rectal examination. Investigations revealed a normal full blood count and renal profile, raised alkaline phosphatase and Prostate Specific Antigen (PSA), and low serum Calcium. A bone scan was perfo...

Gout, a metabolic disorder, is commonly accepted as a peripheral joint disease of the appendicular skeleton by the deposition of monosodium urate crystals. Gouty involvement of the spinal column is rare. In this paper, we report a case of spinal gout with spondylolisthesis, meanwhile, we review the clinical, radiological features, diagnosis and treatment of spinal gout in literature. The patien...

Congenital skeletal anomalies are rare disorders, with a subset affecting both the cranial and appendicular skeleton. Two categories, craniosynostosis syndromes and chondrodysplasias, frequently result from aberrant regulation of the fibroblast growth factor (FGF) signaling pathway. Our recent work has implicated FGF signaling in a third category: ciliopathic skeletal dysplasias. In this work, ...

Schistosomus reflexus (SR) is a rare and fatal congenital disorder. Primarily observed in ruminants, its defining features include spinal inversion, exposure of the abdominal viscera because of a fissure of the ventral abdominal wall, limb ankylosis, positioning of the limbs adjacent to the skull and, lung and diaphragm hypoplasia. Variable components of SR include scoliosis, cleft sternum, exp...

Osteochondromas are the most common benign tumors of the bone. They mostly arise from the appendicular skeleton and present clinically in the second or third decade of life. Ostechondromas arising from the subaxial cervical spine and presenting after the 5th decade of life are extremely rare. We report a 52-year-old male patient who presented with numbness and subjective weakness of left upper ...

Ulnaless (Ul), an X-ray-induced dominant mutation in mice, severely disrupts development of forearms and forelegs. The mutation maps on chromosome 2, tightly linked to the HoxD complex, a cluster of regulatory genes required for proper morphogenesis. In particular, 5'-located (posterior) Hoxd genes are involved in limb development and combined mutations within these genes result in severe alter...

Introduction Giant cell-rich osteosarcoma (GCRO) is a rare pathologic diagnosis, and most cases have involved the appendicular skeleton. We present a challenging diagnosis of GCRO of the skull base treated with an endoscopic endonasal approach. Case Presentation An 18-year-old female patient presented with acute monocular visual loss. Imaging revealed a large clival mass encasing the internal c...

The goal of computer-assisted navigation (CAN) is to increase surgical accuracy and reduce the chance of malposition of implants. For total knee arthroplasty (TKA), malalignment is commonly defined as a variation of greater than 3 degrees from the targeted position. Proper implant alignment is believed to be an important factor for minimizing long-term wear, risk of osteolysis, and loosening of...

Inactivation of Noggin, a secreted antagonist of Bone Morphogenetic Proteins (BMPs), in mice leads, among others, to severe malformations of the appendicular skeleton and defective skeletal muscle fibers. To determine the molecular basis of the phenotype, we carried out a histomorphological and molecular analysis of developing muscles Noggin(-/-) mice. We show that in 18.5 dpc embryos there is ...