General Orthopaedic Conditions Flashcards
What is the primary cause of Osteogenesis Imperfecta, and how does it affect the bones?
Osteogenesis Imperfecta is caused by a genetic disorder affecting Type 1 collagen, leading to decreased bone density which makes bones fragile and prone to fracture.
Describe two common signs of Osteogenesis Imperfecta, and explain which specific type of the condition has a high perinatal mortality rate.
Common signs include bones that break with minor trauma, blue sclerae, and bone deformities like scoliosis or bowlegs. Type 2 Osteogenesis Imperfecta has a high perinatal mortality rate due to severe breathing problems and multiple fractures.
What is the difference between monostotic and polyostotic fibrous dysplasia and how might these present?
Monostotic fibrous dysplasia involves a single bone lesion, whereas polyostotic involves multiple lesions and may be associated with endocrine disturbances and skin pigmentation (McCune-Albright syndrome).
How are Neurofibromatosis type 1 and type 2 distinguished, and what are two common signs of Neurofibromatosis 1?
Neurofibromatosis type 1 is usually diagnosed in childhood, while type 2 is diagnosed in adulthood. Two common signs of NF1 include café au lait spots and freckling in the armpits or groin area.
What are the most common symptoms associated with Neurofibromatosis 2?
The most common symptoms of Neurofibromatosis 2 include gradual hearing loss, ringing in the ears, and poor balance.
How is Multiple enchondromatosis (Ollier’s disease) characterised and which areas of the body does it most often affect?
Multiple enchondromatosis (Ollier’s disease) is characterised by areas of unossified hyaline cartilage arising around the growth plate, affecting the long bones and particularly the hands.
What are the key features of Multiple epiphyseal dysplasia, and how does it affect joint development?
Multiple epiphyseal dysplasia presents with short stature, symmetrically short limbs, and joint stiffness. It affects joint development by causing late and incomplete ossification of the epiphyses, leading to deformities.
What is the primary feature of Hereditary multiple exostoses, and what bone regions are most commonly affected?
Hereditary multiple exostoses is characterized by the development of benign growths of bone, or exostoses, arising from the epiphysis. The long bones, iliac crests, and scapulae are most commonly affected.
Describe the characteristic physical presentation of Achondroplasia and discuss its inheritance pattern.
Achondroplasia presents with short limbs, a normal trunk, a large forehead, and a flattened nose. It is typically inherited as an autosomal dominant trait, but 80% of cases occur sporadically.
What are the key features of Paget’s Disease, and how might it be initially detected?
Paget’s Disease is characterized by a disordered bone architecture, leading to thickened and bowed bones with coarse trabeculae. It is often diagnosed incidentally on X-rays as most patients are asymptomatic.