Worksheets1. Congenital & Hereditary Diseases
Total questions: 50
Worksheet time: 25mins
Which genetic defect most directly explains the brittle bones seen in Osteogenesis Imperfecta (OI)?
Mutation in COL1A1/COL1A2 causing abnormal type I collagen
Mutation increasing osteoclast activity and bone resorption
Defect in fibroblast growth factor receptor 3 (FGFR3) increasing bone length
Mutation leading to excess bone marrow blood cell production
A newborn presents with multiple fractures after minimal handling, blue sclera, and curved spine. Which condition best fits this presentation?
Osteogenesis Imperfecta
Achondroplasia
Osteopetrosis
Developmental Dysplasia of the Hip
Which diagnostic test specifically measures bone density and helps confirm Osteogenesis Imperfecta?
DEXA scan
Bone marrow biopsy
Arthroscopy
Pulmonary function test
Achondroplasia primarily results from a mutation in FGFR3. What is the typical consequence of this mutation on bone growth?
Inhibition of endochondral ossification leading to shortened long bones
Excess intramembranous ossification causing enlarged skull
Overactive osteoclasts causing decreased bone mass
Increased type I collagen resulting in hyperdense bone
Which sign is most characteristic of Achondroplasia based on the section’s overview?
Disproportionate short limbs with normal trunk
Generalized brittle bones and frequent fractures
Markedly increased bone density with marrow space loss
Hip joint instability with asymmetric leg creases
Osteopetrosis is best described as which pathophysiologic change?
Defective osteoclast function leading to excessive bone density
Reduced collagen production causing fragile bones
Abnormal FGFR3 signaling inhibiting growth plate activity
Laxity of hip joint capsule causing femoral head instability
Which clinical consequence aligns with Osteopetrosis?
Bone fractures despite increased bone density
Tall stature due to accelerated long bone growth
Blue sclera due to collagen defects
Hip dislocation evident in Ortolani maneuver
A screening infant hip exam reveals clicking during abduction and asymmetric thigh folds. Which condition should be suspected?
Developmental Dysplasia of the Hip (DDH)
Achondroplasia
Osteogenesis Imperfecta
Osteopetrosis
Which imaging modality is emphasized for diagnosing DDH in infants?
Ultrasound of the hip joint
CT angiography
DEXA scan
Bone scintigraphy
Which finding is most consistent with vertebral anomalies such as scoliosis?
Lateral curvature of the spine visible on standing X-ray
Blue sclera with recurrent fractures
Macrocephaly with shortened limbs
Hip dislocation detected by Barlow test
Which cause category correctly pairs with the disease from this section?
OI: mutations in collagen genes
DDH: mutation in osteoclast proton pump
Achondroplasia: autoimmune inflammation of joints
Osteopetrosis: ligamentous laxity during infancy
Which sign differentiates Achondroplasia from Osteogenesis Imperfecta according to the overview?
Trident hand and macrocephaly
Blue sclera and curved spine
Markedly dense bones on X-ray
Positive Ortolani maneuver
What is a common diagnostic step shared across several conditions in this section to visualize bony changes?
X-ray imaging of the affected region
Spirometry assessing respiratory capacity
EEG evaluating neural activity
Colonoscopy inspecting mucosa
Which statement best captures the pathophysiology of DDH?
Instability or abnormal development of the hip joint leading to femoral head displacement
Defective osteoclasts causing dense, brittle bones
Reduced type I collagen synthesis causing bone fragility
Overactivation of FGFR3 causing shortened long bones
A child with vertebral anomalies is noted to have spinal cord tethering risk. Which associated condition from the section may present with this concern?
Spina bifida
Achondroplasia
Osteogenesis Imperfecta
DDH
Which statement best describes craniosynostosis in the context of cranial anomalies?
Premature fusion of one or more cranial sutures leading to abnormal skull shape
Incomplete closure of the vertebral arches causing spinal cord herniation
Defective ossification of long bones resulting in bowing of legs
Inflammation of the meninges secondary to bacterial infection
Which sign or symptom is most characteristic of craniosynostosis?
Macrocephaly with open fontanelles
Abnormal head shape due to early suture fusion
Delayed closure of sutures with soft skull
Normal skull shape but widened cranial sutures
Osteomyelitis primarily involves which pathophysiological process?
Autoimmune attack on joint synovium
Bacterial infection of bone and bone marrow
Malignant transformation of cartilage cap
Premature fusion of vertebral endplates
A common cause of osteomyelitis in adolescents is most likely due to:
Hematogenous spread of Staphylococcus aureus
Congenital mutation in collagen type I genes
Mycobacterium tuberculosis in the lung
Traumatic rupture of intervertebral disc
Which diagnostic approach is emphasized for osteomyelitis?
DEXA scan to assess bone density only
X-ray showing bone destruction and periosteal reaction; may be supported by MRI and culture
Ultrasound of soft tissues exclusively
Skin biopsy to detect epithelial changes
Bone tuberculosis differs from pyogenic osteomyelitis primarily because bone TB is:
Caused by Staphylococcus aureus with acute onset
A chronic mycobacterial infection often originating from pulmonary tuberculosis
A neoplastic transformation of marrow cells
An autoimmune arthropathy affecting synovial lining
Which feature is typical of arthropathy as outlined in the section?
Joint disease presenting with pain, swelling, and reduced range of motion
Bone tumor with cartilage cap and stalk
Congenital fusion of cranial sutures
Fracture resulting from repetitive stress to long bones
Which cause is most closely associated with arthropathy in this section’s context?
Mechanical wear and tear, autoimmune processes, or infection affecting joints
Congenital absence of cranial sutures
Deficiency of vitamin D in childhood only
Primary neoplasm arising from osteoblasts
Which risk factor or cause is commonly linked to spondylolysis?
Autoimmune-mediated synovitis
Repetitive stress, especially in athletes, causing pars defects
Congenital fusion of vertebral bodies
Neoplastic invasion of the pedicle
Spondylolisthesis refers to:
Posterior displacement of the sacrum
Forward slippage of a vertebra relative to the one beneath it
Compression fracture of the vertebral body
Lateral curvature of the thoracic spine
Which sign or symptom most aligns with spondylolisthesis?
Severe head shape abnormality at birth
Low back pain and possible nerve compression symptoms
Acute fever with localized bone tenderness only
Restricted shoulder abduction with crepitus
What is the typical diagnostic modality for confirming spondylolisthesis?
Ultrasound of abdomen
Lateral spine X-ray showing vertebral slippage; CT/MRI for severity and neural involvement
DEXA scan exclusively
Arthroscopy of the knee
Osteochondroma is characterized by which key feature?
A benign bone tumor with a cartilage cap projecting from the metaphysis
A malignant osteoid-producing tumor in the diaphysis
An inflammatory lesion within joint synovium
A congenital absence of the patella
Which location is classically associated with osteochondroma growth?
Epiphysis of small bones of the hand
Metaphyseal region of long bones near the growth plate
Vertebral spinous processes exclusively
Skull base near cranial sutures
Which diagnostic approach is most appropriate for osteochondroma?
X-ray demonstrating a bony outgrowth with a cartilage cap; MRI to assess cartilage thickness
Bone marrow biopsy for hematologic analysis
DEXA scan to determine tumor density
Ultrasound to visualize synovial fluid
Which benign bone tumor is described as a less frequent, slow-growing lesion that commonly affects craniofacial bones and may cause hearing or vision problems due to local mass effect?
Osteoma
Endochondroma
Osteosarcoma
Ewing sarcoma
Endochondroma most typically arises in which anatomical context?
Intramedullary cartilage tumor in small bones of the hands and feet
Surface-based osteoid-forming tumor in long bone metaphyses
Malignant bone tumor of osteoblastic origin in adolescents
Round cell malignant tumor often in diaphysis of long bones
Which finding best characterizes giant cell tumor (GCT) of bone?
Epiphyseal location extending to subchondral bone
Diaphyseal onion-skin periosteal reaction
Cortical-based osteoid osteoma relieved by NSAIDs
Metaphyseal cloud-like chondroid calcifications
Which malignant bone tumor classically presents in adolescents with sunburst periosteal reaction and Codman triangle on imaging?
Osteosarcoma
Chondrosarcoma
Ewing sarcoma
Endochondroma
Ewing sarcoma most commonly involves which bone region and characteristic radiographic pattern?
Diaphysis with lamellated (onion-skin) periosteal reaction
Epiphysis with soap-bubble lytic lesion
Metaphysis with sunburst spicules
Flat bones with punctate chondroid calcifications
Which neoplasm is a malignant cartilage-forming tumor that often affects the pelvis and proximal femur in adults?
Chondrosarcoma
Osteosarcoma
Osteoblastoma
Giant cell tumor
A patient with a small, cortical, osteoid-producing lesion causing nighttime pain relieved by NSAIDs most likely has which tumor?
Osteoid osteoma
Endochondroma
Ewing sarcoma
Chondrosarcoma
Which tumor frequently presents around the knee with localized pain, swelling, and risk of pathologic fracture due to an expansile lytic lesion?
Giant cell tumor
Ewing sarcoma
Endochondroma
Osteoma
Which benign tumor commonly affects the craniofacial bones and may appear as a dense, sclerotic lesion on X-ray?
Osteoma
Chondrosarcoma
Osteosarcoma
Ewing sarcoma
Which imaging modality is most useful to identify characteristic chondroid calcifications (“rings and arcs”) in an intramedullary cartilage tumor of the hand?
X-ray showing well-circumscribed lucent lesion with chondroid calcifications
MRI demonstrating sunburst periosteal reaction
Bone scan revealing hot spot in diaphysis
Ultrasound showing hyperechoic cortical nidus
Which statement best distinguishes osteoblastoma from osteoid osteoma?
Osteoblastoma is larger, often in spine, pain not reliably relieved by NSAIDs
Osteoblastoma is smaller cortical lesion with classic NSAID response
Osteoblastoma presents with onion-skin periosteal reaction in diaphysis
Osteoblastoma is a malignant osteoid-forming tumor of adolescents
Which clinical feature is most consistent with osteosarcoma?
Progressive bone pain and swelling in the metaphysis of long bones with aggressive periosteal reaction
Slow-growing craniofacial mass causing sinus obstruction
Asymptomatic hand lesion incidentally found with chondroid calcifications
Back pain with neurological symptoms due to epidural extension
Ewing sarcoma is associated with which systemic sign due to its small round cell nature?
Fever and elevated inflammatory markers
Night pain relieved by NSAIDs
Hearing loss from skull base involvement
Calcified cartilage matrix on X-ray
Which tumor is known for producing cartilage matrix and often shows ring-and-arc calcifications on imaging?
Chondrosarcoma
Osteosarcoma
Ewing sarcoma
Giant cell tumor
Which diagnosis fits an expansile lytic lesion in the epiphysis of the distal femur with ‘soap-bubble’ appearance and joint pain?
Giant cell tumor
Endochondroma
Osteoblastoma
Ewing sarcoma
Which cause/risk factor pairing is most accurate for osteosarcoma as described?
Linked to rapid bone growth in adolescents and prior radiation; arises in metaphysis
Caused by chronic infection of the diaphysis; arises in epiphysis
Due to degenerative cartilage; primarily affects hands and feet
Results from nasal polyp obstruction; localized to craniofacial bones
Which imaging hallmark supports the diagnosis of Ewing sarcoma?
X-ray: diaphyseal permeative lesion with onion-skin periosteal reaction
CT: dense sclerotic mass in craniofacial bone
MRI: well-circumscribed intramedullary cartilage lesion
X-ray: sunburst spicules from metaphyseal lesion
In adults with deep, aching pain in the pelvis and proximal femur, which malignant tumor is most likely and what imaging feature is typical?
Chondrosarcoma; ring-and-arc chondroid calcifications
Osteosarcoma; Codman triangle
Ewing sarcoma; onion-skin periosteal reaction
Osteoma; dense craniofacial sclerosis
Which benign tumor may present with sinus obstruction, headaches, and vision problems due to craniofacial involvement?
Osteoma
Osteoblastoma
Endochondroma
Ewing sarcoma
Which tumor is classically located in the spinal posterior elements and can cause back pain with limited motion, sometimes mimicking radiculopathy?
Osteoblastoma
Endochondroma
Chondrosarcoma
Osteoid osteoma
