Hypophosphatasia is a clinically heterogeneous inheritable disorder characterized by defective bone mineralization and the deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activities. Due to the mineralization defect of the bones, various skeletal findings can be radiologically observed in hypophosphatasia. Bowing and Bowdler spurs of long bones are the characteristic findi...

to fracture. However, bones fracture for different reasons, so there are several different biomechanical definitions of bone fragility. One function of bones is to carry loads. Fractures occur when loads exceed the bone strength, so weakened bones should be considered fragile. For example osteoporotic vertebral bodies might fracture during normal daily activities like opening a window or rising...

Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory fact...

Bowing fractures are incomplete fractures of tubular long bones, often observed in pediatric patients, where plain radiographic film is the non-invasive imaging modality of choice in routine radiological workflow. Due to weak association between bent bone and distinct cortex disruption, bowing fractures may not be diagnosed properly while reading plain radiography. Missed fractures and dislocat...

OBJECTIVE To present the early 2D and 3D ultrasound findings and the molecular confirmation in a case of thanatophoric dysplasia. METHODS On ultrasound examination, there was frontal bossing, increased nuchal translucency and short limbs at 12 weeks' gestation and a small thorax and short and bowed long bones on 3D at 16 weeks. Amniocentesis and DNA analysis confirmed the mutation of FGFR3 ge...

We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, irregular, flared metaphyses, restricted joint mobility, a small thorax and short trunk, a normal cranium and psychomotor development, and a tendenc...

Stüve-Wiedemann syndrome is an autosomal-recessive disorder characterised by bowing of the long bones, progressive scoliosis, episodic hyperthermia and respiratory distress, usually resulting in death in infancy. We reviewed five children with the condition who had been followed since birth and who survived into childhood with a mean age at operation of 7.8 years (5 to 14). There was marked fun...

BACKGROUND Paget's disease of bone leads to change in the shape and size of the bone and results in reduced bone strength, leading to the complications of deformity, arthritis, and fracture. Due to unknown reasons, Paget's disease is rare in Asian descendants. We report the cases of Paget's disease who visited our institute for 15 years and reviewed the literatures. METHODS We retrospectively...

Ossifying fibroma is a slow growing benign neoplasm usually Involving bones of the skull and face, mainly mandible maxilla. The tumor composed bone that develops within fibrous connective tissue, sometimes with cementum-like calcifications. Clinical presentation asymptomatic, rarely presented facial asymmetry, swelling, pain, bowing long bones. Radiological investigations are computed tomograph...