Osteogenesis imperfecta

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Osteogenesis imperfecta

Musculoskeletal system

Pediatric musculoskeletal conditions

Radial head subluxation (Nursemaid elbow)

Developmental dysplasia of the hip

Legg-Calve-Perthes disease

Slipped capital femoral epiphysis

Transient synovitis

Osgood-Schlatter disease (traction apophysitis)

Musculoskeletal injuries and trauma

Rotator cuff tear

Dislocated shoulder

Radial head subluxation (Nursemaid elbow)

Winged scapula

Thoracic outlet syndrome

Carpal tunnel syndrome

Ulnar claw

Erb-Duchenne palsy

Klumpke paralysis

Iliotibial band syndrome

Unhappy triad

Anterior cruciate ligament injury

Patellar tendon rupture

Meniscus tear

Patellofemoral pain syndrome

Sprained ankle

Achilles tendon rupture

Spondylolysis

Spondylolisthesis

Degenerative disc disease

Spinal disc herniation

Sciatica

Compartment syndrome

Rhabdomyolysis

Bone disorders

Osteogenesis imperfecta

Craniosynostosis

Pectus excavatum

Arthrogryposis

Genu valgum

Genu varum

Pigeon toe

Flat feet

Club foot

Cleidocranial dysplasia

Achondroplasia

Osteomyelitis

Bone tumors

Osteochondroma

Chondrosarcoma

Osteoporosis

Osteomalacia and rickets

Osteopetrosis

Paget disease of bone

Osteosclerosis

Lordosis, kyphosis, and scoliosis

Joint disorders

Osteoarthritis

Spondylosis

Spinal stenosis

Rheumatoid arthritis

Juvenile idiopathic arthritis

Gout

Calcium pyrophosphate deposition disease (pseudogout)

Psoriatic arthritis

Ankylosing spondylitis

Reactive arthritis

Spondylitis

Septic arthritis

Bursitis

Baker cyst

Muscular disorders

Muscular dystrophy

Polymyositis

Dermatomyositis

Inclusion body myopathy

Polymyalgia rheumatica

Fibromyalgia

Rhabdomyosarcoma

Neuromuscular junction disorders

Myasthenia gravis

Lambert-Eaton myasthenic syndrome

Other autoimmune disorders

Sjogren syndrome

Systemic lupus erythematosus

Mixed connective tissue disease

Antiphospholipid syndrome

Raynaud phenomenon

Scleroderma

Limited systemic sclerosis (CREST syndrome)

Musculoskeletal system pathology review

Back pain: Pathology review

Rheumatoid arthritis and osteoarthritis: Pathology review

Seronegative and septic arthritis: Pathology review

Gout and pseudogout: Pathology review

Systemic lupus erythematosus (SLE): Pathology review

Scleroderma: Pathology review

Sjogren syndrome: Pathology review

Bone disorders: Pathology review

Bone tumors: Pathology review

Myalgias and myositis: Pathology review

Neuromuscular junction disorders: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review

Assessments

Osteogenesis imperfecta

Flashcards

0 / 11 complete

USMLE® Step 1 questions

0 / 3 complete

High Yield Notes

16 pages

Flashcards

Osteogenesis imperfecta

of complete

Questions

USMLE® Step 1 style questions USMLE

of complete

A 4-year-old girl is brought to the emergency department by her parent after a fall. The patient was running on the playground when she tripped and fell onto the mulch. She did not hit her head or lose consciousness. Past medical history is significant for several fractures that occured after minor trauma. Her parent also has a history of multiple fractures. The patient has been meeting most developmental goals but is experiencing language delays, for which she is scheduled to receive a hearing test in the upcoming week. The patient is at 15th and 20th percentile for height and weight, respectively. Vitals are within normal limits. Physical examination shows bruising along the left lateral thigh, knee, and elbow. Kyphoscoliosis is also noted. Examination of the patient’s oropharynx reveals the following finding:


Image reproduced from Wikimedia Commons

Laboratory results are within normal limits. Plain radiograph shows a fracture of the olecranon. Which of the following is the most likely explanation for the patient’s presentation?  

External References

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Bisphosphonates p. 499

osteogenesis imperfecta treatment p. 49

Blue sclerae p. 49

osteogenesis imperfecta p. 714

Bone disorders

osteogenesis imperfecta p. 49

Child abuse p. 579

osteogenesis imperfecta and p. 49

Dentin

osteogenesis imperfecta p. 49

Hearing loss p. 552

osteogenesis imperfecta p. 49

Osteogenesis imperfecta p. 49

bisphosphonates p. 499

collagen and p. 48

presentation p. 714

Sclerae p. 553

osteogenesis imperfecta p. 49

Teeth

osteogenesis imperfecta p. 49

Summary

Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by impaired production of type 1 collagen, an essential protein in the development and maintenance of bones and connective tissue. Collagen provides strength and support to the bones, and in individuals with OI, the collagen produced is weak, leading to bones that are brittle and prone to fractures.

OI may present with shorter height and neurological features, including communicating hydrocephalus, basilar invagination, seizures, blue sclerae, hearing loss, and other complications. Associated fractures may cause acute or chronic pain, reduced quality of life, and depression.

Elsevier

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