System Block 3 Final

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  1. Infant is only fed with cow milk. Infant presents with pain and tenderness in the legs, which is often severe. Easy bruising is also speculated.

    A. Scurvy
    B. Morquio Syndrome
    C. Cretinism
    D. Achondroplasia
    A. Scurvy (Vitamin C deficiency)
    (this multiple choice question has been scrambled)
  2. Maternal Iodine Deficiency

    A. Achondroplasia
    B. Scurvy
    C. Cretinism
    D. Osteochondroma
    C. Cretinism
    (this multiple choice question has been scrambled)
  3. Patient presents with dwarfism, limbs disproportionately short in relation to the trunk. The fontanelles of the skull were closed late resulting in unusually large head. Delay in closure of epiphyses

    A. Scurvy
    B. Achondroplasia
    C. Osteochondrosis
    D. Cretinism
    D. Cretinism
    (this multiple choice question has been scrambled)
  4. In this pathology, maturation of the hypertrophied zone is retarded, and the zone of proliferation cartilage is narrow. Growth plates remain open but failure of endochondral ossification produces severe dwarfism.

    A. Achondroplasia
    B. Scurvy
    C. Cretinism
    D. Osteosarcoma
    C. Cretinism
    (this multiple choice question has been scrambled)
  5. Mucopolysaccharidosis type 4 leading to a severe form of dwarfism, dental defects, mental retardation, corneal opacities and increased urinary excretion of keratan sulfate

    A. Morquio Syndrome
    B. Osteochondroma
    C. Achondroplasia
    D. Scurvy
    A. Morquio Syndrome
    (this multiple choice question has been scrambled)
  6. Patient presents with short stature and neck, hypermobile joints, skeletal deformities, widely spaced teeth, cardiomegaly, and mild hepatospenomegaly, severe scoliosis.

    A. Morquio Syndrome
    B. Osteopetrosis
    C. Achondroplasia
    D. Enchondromatosis
    A. Morquio Syndrome
    (this multiple choice question has been scrambled)
  7. Inherited Dwarfism caused by arrest of growth plate

    A. Scurvy
    B. Cretinism
    C. Achondroplasia
    D. Enchondromatosis
    C. Achondroplasia
    (this multiple choice question has been scrambled)
  8. Patient presents with macrocephaly and short-limbed dwarfism. There is failure of normal epiphyseal cartilage formation. Patient also has severe kyphoscoliosis. There is a mutation in FGFR3. What is the diagnosis and chromosomal mutation?

    A. Osteosarcoma
    B. Morquio Syndrome
    C. Achondroplasia
    D. Echondromatosis
    C. Achondroplasia (Chromosome 4 p16.3)
    (this multiple choice question has been scrambled)
  9. A 30-year-old man with dwarfism is admitted to the hospital for hip replacement due to severe osteoarthritis. He has short arms and legs and a relatively large head. His parents do not show signs of the this congenital disease. This patient most likely has a spontaneous mutation in the gene encoding which of the following proteins?

    A. Dystrophin
    B. Collagen Type 1
    C. Insulin-like growth factor
    D. Fibroblast growth factor receptor
    E. Growth hormone receptor
    D. Fibroblast growth factor receptor (achondroplasia)
    (this multiple choice question has been scrambled)
  10. Patient presents with easy bruising and poor nutritional diet. Upon examination there is lack of osteoblastic function and a deficiency of vitamin C. There is irregular vascular perforation of the cartilage plate leading to impaired wound healing and bone growth. What is the diagnosis?

    A. Achondroplasia
    B. Enchondromatosis
    C. Osteochondroma
    D. Scurvy
    D. Scurvy
    (this multiple choice question has been scrambled)
  11. Failed osteoclastic bone resorption leading to marble bone disease.
  12. Characterized by: retention of primary spongiosum with its cartilage cores, lack of funnelization of the metaphysis, and thickened cortex
  13. Patient presents with severe anemia, extramedullary hematopoiesis. She also presents with blindness and deafness. X-ray imaging shows abnormally radiodense bones weighing 2x -3x more than normal bone
    Marble Bone disease (osteopetrosis)
  14. 6-year-old child with mild hydrocephalus suffers chronic infections and dies of intractable chronic anemia. At autopsy, his bones are dense and misshapen. The femur, in particular, shows obliteration of the marrow space. Histologically, the bones demonstrate disorganization of bony trabeculae by retention of primary spongiosa and further obliteration of the marrow spaces by secondary spongiosa (shown in the image). Hematopoietic bone marrow cells are sparse. The disorder is caused by mutation in genes that regulate which of the following cell types?

    A. Myofibroblasts
    B. Osteoblasts
    C. Fibroblasts
    D. Normoblasts
    E. Osteoclasts

    E. Osteoclasts (osteopetrosis)
    (this multiple choice question has been scrambled)
  15. 24-year-old man on chronic corticosteroid therapy for severe asthma presents with a 6-month history of increasing hip pain. This patient most likely exhibits symptoms of which of the following metabolic bone disease?

    A. Osteoporosis
    B. Osteopetrosis
    C. Paget disease
    D. Gaucher disease
    E. Osteomalacia
    A. Osteoporosis
    (this multiple choice question has been scrambled)
  16. marble bone disease
  17. 8 year old boy complains of bone pain, weak muscles, fatigue and a stiff waddling gait. Upon examination the shafts of the long bone and skull become thickened
  18. symmetric thickening and increased diameter oft he diaphysis of long bones. Patient will present will present with chronic pain, fatigue, and gait abnormalities
    progressive diaphyseal dysplasia
  19. gene mutation of COL1A1 resulting in abnormal formation of type 1 collagen
    Osteogenesis Imperfecta
  20. Fractures at infancy, thin bones, blue sclera

    Which type of Osteogenesis Imperfecta?
    Type 1
  21. Lethal short stature, severe defects, blue sclera

    Which type of Osteogenesis Imperfecta?
    Type 2
  22. Most deforming type, many bone fractures, severe deformities, brittle teeth

    Which type of Osteogenesis Imperfecta?
    Type 3
  23. Fractures at infancy, thin bones, defect in collagen quality

    Which type of Osteogenesis Imperfecta?
    Type 4
  24. Inherited as an autosomal dominant trait, characterized by multiple fractures after birth, blue sclera and hearing abnormalities
    Osteogenesis Imperfecta Type I
  25. Infants are usually still stillborn or die within a few days after birth. Severe limb deformities. All bones sustain fractures during delivery or during uterine contractions. Sclerae are blue
    Osteogenesis Imperfecta Type II
  26. Most severly deforming type of diseases and is characterized by many bone fractures, growth retardation and severe skeletal deformities. Fractures are present at birth. Patients develop severe shortening of their stature because of progressive bone fractures and severe kyphoscolosis. Sclerae may be blue at birth, but become white shortly thereafter.
    Osteogenesis Type 3
  27. Abnormal cross-linkages of collagen result in thin, delicate and weak collagen fibrils. This does not allow the bone cortex to mature. affected infants are stillborn or die within a few days after birth.
    Osteogenesis Imperfecta Type 4
  28. 2-year-old boy is treated for recurrent fractures of his long bones. Physical examination reveals blue sclerae, loose joints, abnormal teeth, and poor hearing. Molecular diagnostic studies will most likely demonstrate a mutation in the gene encoding which of the following proteins?

    A. Fibrillin
    B. Lysyl hydrosylase
    C. Collagen
    D. Fibroblast growth factor receptor
    E. Dystrophin
    C. Collagen
    (this multiple choice question has been scrambled)
  29. Development of numerous cartilaginous masses that lead to bony deformities. Most types of cartilage (residual hyaline, anlage, from growth plate) does not undergo endochondral ossification and remains in the bones.
  30. Bones show multiple, tumor-like masses of abnormally arranged hyaline cartilage (enchondromas), with zones of proliferative and hypertrophied cartilage. These tumors tend to be located in the metaphysis and settle in the diaphysis
  31. mutation of PTHR1 gene
  32. A 35-year-old woman has multiple cartilaginous lesiosn in her long and short bones. A radiograph of the hand reveals bulbous swellings. A biopsy shows abnoramlly arranged hyaline cartilage, with scattered zones of proliferation. What is the diagnosis of this patient and what are they at risk for?

    Enchondromatosis / Chondrosarcoma
  33. Multiple enchondromas and cavernous or spindle cell hemangiomas of soft tissue. Usually manifests in early childhood and may lead to significant skeletal deformities
    Maffucci Syndrome
  34. Type of trauma characterized by a ligament being stretched beyond its capacity
  35. Type of trauma characterized by joint dislocation
  36. Where is a stress fracture most commonly found?
    3rd metatarsal of foot
  37. Child with a type 5 tracture will need to be notified of...
    Growth arrest
  38. Osteonecrosis at the head of the femoral in an adult
    idiopathic osteonecrosis
  39. Osteonecrosis at the head of the femoral in a child
    Legg-Calvé-Perthes disease
  40. Center of an early lesion of this condition is characterized by proliferating fibroblasts and
    more peripheral osteoblastic cells beginning to form woven bone
    Myositis Ossificans
  41. A 17 YO boy fractures his left tibia in a skiing accident. One year later, an X-ray of his leg discloses reactive bone formation in the calf muscle at the site of injury. Which of the following is the most likely diagnosis?

    A. Myositis Ossificans
    B. Synoval Sarcoma
    C. Malignant Fibrous Histiocytoma
    D. Fibrous Dysplasia
    E. Nodular Fasciitis
    A. Myositis Ossificans
    (this multiple choice question has been scrambled)
  42. Disease known as an inflammation, usually caused by a bacterial infection of bone and bone marrow
  43. Most common pathogen causing osteomyelitis
    Staphylococcus Aureus
  44. What condition is characterized by bacterial organisms introduced directly into bone by pen-
    etrating wounds, open fractures or surgery
  45. Most common sites affected by hematogenous osteomyelitis
    Metaphyses of long bones such as in knee, ankle and hip
  46. Most common predisposing factor of osteomyelitis
    Drug Abuser
  47. A complication of childhood tuberculosis. Most commonly affecting the 11th thoracid vertebrae. The vertebral body is almost completely replaced by tuberculous tissue
    Pott Disease
  48. Chronic, inflammatory disease of bone, characterized by granulomas, necrosis and marked reactive bone formation.
    Syphilis of Bone
  49. What area is most affected in congenital syphilis?
    the knee
  50. What stage of syphilis affects the adults in acquired syphilis?
    early in tertiary stage
  51. What are the areas most affected in acquired syphilis?
    tibia, nose, palate and skull
  52. A 50-year-old man presents with a 2-day history of left leg pain. His temperature is 38.7°C (103°F). He has a harsh systolic murmur and echocardiographic evidence of bacterial endocarditis. If this patient has developed hematogenous osteomyelitis, his bone infection would most likely be found in which of the following anatomic locations? 

    (A) Body of a flat bone
    (B) Diaphysis of a long bone
    (C) Epiphysis of a long bone
    (D) Metaphysis of a long bone
    (E) Periosteum of a long bone
    D. Metaphysis of a long bone
  53. The 3 types of Langerhans Cell Histiocytosis
    • 1. Eosinophilic Granuloma, a localized form
    • 2. Hand-Schüller-Christian disease, a disseminated variant
    • 3. Letterer-Siwe disease, a fulminant and often fatal generalized disease
  54. A 2-year-old boy presents with a rash. On physical examination, he has a crusty, red skin lesion at the hairline and on the extensor surfaces of his extremities and abdomen. Exophthalmos is noted. An X-ray film of the head shows multiple, radiolucent lesions in the skull. A biopsy of one of the skull lesions shows large, plump cells with pale, eosinophilic, foamy cytoplasm and convoluted nuclei (shown in the image). What is the most likely diagnosis?

    (A)  Ewing sarcoma
    (B)  Giant cell tumor of bone
    (C)  Hand-Schüller-Christian disease
    (D)  Large B-cell lymphoma
    (E)  Multiple myeloma 

    C. Hand-Schuller-Christian disease
  55. In this type of Langerhans Cell Histiocytosis, it is usually seen in the first two decades of life and is self-limited causing one or two lytic lesions on the axial skeleton, and vertebrae.
    Eosinophilic Granuloma
  56. This type of langerhans cell histiocytosis is characterized by a triad:

    1: Radiolucent lesions of the skull
    2: Diabetes inspidus
    3: Exophthalmos (occurs in only 1/3 of patients)
    Hand-Schuller-Christian disease
  57. Diabetes mellitus is caused by hand-schuller-christian disease and the infiltration of langerhans cells into the
    hypothalamic stalk
  58. In this condition, involvement of the jaw bone results in loss of teeth, evident radiologically as
    “floating teeth”
    Hand-Schuller-Christian Disease
  59. What type of Langerhans Cell Histiocytosis results in multiple organ involvement which culminates in massive hepatosplenomegaly, lymphadenopathy, anemia, leukopenia, and thrombocytopenia??
    Letterer-Siwe Disease
  60. Osteoporosis is characterized by increased activity of which cell?

    A. Osteoclast
    B. Osteoblast
    C. Osteoid
    D. Osteocyte
    A. Osteoclast
    (this multiple choice question has been scrambled)
  61. Metabolic bone disease characterized by diffuse skeletal lesions in which normally mineralized bone is decreased in mass to the point that it no longer provides adequate mechanical support.
  62. Women in early postmenopausal have decreas estrogen in their bodies. The estrogen withdrawal directly increased risk for
    Osteoporosis type 1
  63. After age 70, patients reflect decreased osteoblast function making them candidates for..
    Osteoporosis type 2
  64. Disorder of characterized by inadequate mineralization of newly formed bone

    Adult form/ Childform
    Osteomalacia / Rickets
  65. Children with insufficient sun exposure and vitamin D intake leads to?
  66. Intestinal malabsorption of vitamin D in adult can lead to
  67. In a child the epiphyseal growth plate are undermineralized and can lead to affection of enchondral bone formation. Skull, chest wall deformities and vargus are all characteristic of
  68. Impaired mineralization of the osteoid matrix, resulting in thin, fragile bone. Patient will present with low serum calcium and phosphorus and high alkaline phosphatase
  69. Generalized bone resorption due to inappropriate secretion of PTH
    Primary Hyperparathyroidism
  70. Usually from a parathyroid adenoma, the patient will present with increased serum calcium and decreased serum phosphorus.
    Primary Hyperparathyroidism
  71. Metabolic bone disease characterized by bone mineralization deficiency because of chronic renal disease
    Renal Osteodystrophy
  72. A grape-like mass protruding from the penis of a 6-month-old boy would most likely be which of the following?

    A. Leiomyosarcoma
    B. Rhabdomyosarcoma
    C. Neurofibrosarcoma
    D. Leiomyoma
    E. Dermatofibroma
    B. Rhabdomyosarcoma
    (this multiple choice question has been scrambled)
  73. Biopsy of a 6-cm retroperitoneal mass demonstrates fibrous tissue with abundant spindle cells that initially look malignant, but the pathologist concludes the mass is benign. This lesion is most likely which of the following?

    A. Fibromatosis
    B. Fibrosarcoma
    C. Malignant fibrous histiocytoma
    D. Rhabdomyoma
    E. Dermatofibroma
    A. Fibromatosis
    (this multiple choice question has been scrambled)
  74. Which of the following would be the most likely site for a malignant fibrous histiocytoma to arise?

    A. Periorbital space
    B. Retroperitoneum
    C. Deep tissues of the neck
    D. Forearm
    E. Mediastinum
    B. Retroperitoneum
    (this multiple choice question has been scrambled)
  75. Which of the following is the most common sarcoma of the gastrointestinal tract?

    A. Liposarcoma
    B. Osteosarcoma
    C. Rhabdomyosarcoma
    D. Malignant fibrous histiocytoma
    E. Leiomyosarcoma
    E. Leiomyosarcoma
    (this multiple choice question has been scrambled)
  76. Which of the following characteristically has both glands and spindle cells?

    A. Embryonal rhabdomyosarcoma
    B. Malignant fibrosis histiocytoma
    C. Synovial sarcoma
    D. Leiomyoma
    E. Liposarcoma
    F. Lipoma
    G. Dermatofibroma
    H. Rhabdomyoma
    I. Neurofibrosarcoma
    C. Synovial Sarcoma
    (this multiple choice question has been scrambled)
  77. What marker is used to diagnose Ewing Sarcoma?
    • CD99 (positive)
    • bonus: CD 45 (negative)
  78. Chronic condition characterized by lesions of bone resulting from disordered remodeling, which excessive bone resorption initially results in lytic lesions, followed by disorganized and excessive bone formation
    Paget Disease of Bone
  79. Localized increased in osteoclast formation that lead to bone resorption and associated osteoblastic activity
    Paget Disease of Bone
  80. Even though serum calcium and phosphorus levels are normal and alkaline phosphatase level is high, bone turnover increased more than 20-fold resulting in deformed remodeling of bone.
    Paget's Dsiease
  81. Developmental abnormality characterized by a disorganized mixture of fibrous and osseous elements in the medullary region of affected bones
    Fibrous Dysplasia
  82. Virus infects osteoclastic progenitors or osteoclast and stimulates osteoclast activity leading to excessive resorption of bone
    Paget's Disease
  83. Bone develops in mosaic pattern produced by units of lamellar bone. Marrow becomes fibrotic and there is a mixture of osteoclast and osteoblast on the surface of the bone
    Paget Disease
  84. caused by hereditary deficiency of the enzyme glucocerebrosidase. Causes glucosylceramide to collect in bone marrow causing pancytopenia , severe joint and bone pain frequently in hips and knees
    Gaucher Disease
  85. Cafe-au-lait spots are seen along with a mixture of fibrous and osseous elements in bone marrow is called.
    Fibrous Dysplasia (McCune-Albright Syndrome)
  86. Chondroblastoma
  87. Giant Cell Tumor
    A + B
  88. Osteoblastoma
  89. Osteochondroma
  90. Non-ossifying fibroma
  91. Osteoid Oseoma
  92. Chondromyxoid Fibroma
  93. Endochodroma
  94. Fibrous Dysplasia
  95. Ewing Sarcoma
  96. Chondrosarcoma
  97. Osteosarcoma
    Juxtacortica Osteosarcoma
  99. Non-neoplastic lesion, large, well-demarcated, lytic epiphyseal and diaphyseal lesion
    Cortex is also thinned
    Solitary Bone Cyst
  100. Blood-filled spaces are separated by cellular fibrous septa with scattered osteoclast-like giant cells and reactive bone
    Aneurysmal Bone Cyst
  101. This benign bone tumor contains a central nidus embedded in dense bone. The histology contains irregular trabeculae of weoven bone surrounded by osteoblast, osteoclast, and fibrovascular marrow
    Osteoid Osteoma
  102. Lobules of hypocellular hyaline cartiage without atypia
  103. Lytic lesion of the head of the humerus that involves the epiphysis. Histology shows chondroblast surrounded by a mineralized primitive chondroid matrix
  104. Osteoblastic malignant tumor that extends through the cortex of the epiphysis into the soft tissue
  105. Destructive mass replacing the mass containing aggregates of ring-shaped and popcorn-like calcifications. Hyaline cartilage shows calcification, ossification, and focal liquefaction
  106. Osteoclast-type giant cells and plump, oval mononuclear cells inside epiphysis and diaphysis
    Giant Cell Tumor
  107. Expansile cortical destruction with poor cirumscription and a delicate interruped periosteal reaction. Immunohistochemical stain positive for CD99
    Ewing Sarcoma
  108. One solitary tumor usually in a segment of the skull which reveals punched out lytic lesions. Associated with AL amyloid light chain.
    Multiple Myeloma
  109. Osteochondroma
  110. Osteopetrosis
  111. Osteomalacia
  112. Osteosarcoma
  113. What gene mutation is osteosarcoma associated with?
    Retinoblastoma (Rb) gene
  114. Ewing Sarcoma
  115. Hand-Schuller-Christian disease
  116. Osteoid Osteoma
  117. Malignant fibrous histiocytoma
  118. Enchondromatosis (Ollier's disease)
  119. Pott Disease (Tuberculous Spondylitis)
  120. Eosinophilic Granuloma
  121. osteoporosis
  122. Primary Hyperparathyroidism
  123. Primary Hyperparathyroidism
  124. Paget disease
  125. Paget Disease
  126. Fibrous Dysplasia
  127. Fibrous Dysplasia
  128. Aneurysmal Bone Cyst
  129. Osteoid Osteoma
  130. Enchondroma

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System Block 3 Final
2014-02-25 03:00:06
Musculoskeletal Bone Joints

Musculoskeletal Bones Joints
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