Deck 8: Congenital Diseases

Question 1

Which of the following is not part of the classical clinical triad of Klippel-Feil syndrome?

A) Short neck
B) Sprengel deformity
C) Low hairline
D) Diminished cervical range of motion

Answer 1

Sprengel deformity

Question 2

Which of the following diagnostic imaging modalities would least effectively demonstrate the position of the acetabular labrum in an infant with congenital hip dysplasia?

A) Ultrasonography
B) Arthrography
C) MRI
D) Plain film radiography

Answer 2

Plain film radiography

Question 3

Which of the following is the most common dwarfing skeletal dysplasia?

A) Cleidocranial dysplasia
B) Diastrophic dysplasia
C) Achondroplasia
D) Chondroectodermal dysplasia

Answer 3

Achondroplasia

Question 4

Sprengel deformity, omovertebra, and basilar impression are common in patients with __________.

A) achondroplasia
B) Klippel-Feil syndrome
C) cleidocranial dysplasia
D) Down syndrome

Question 5

Which of the following is not commonly associated with Marfan syndrome?

A) Dilatation and aneurysms of the ascending thoracic aorta
B) Mitral valve prolapse
C) Multiple block segments
D) Scoliosis

Question 6

Which of the following conditions is characterized by dwarfism, brachydactyly, and altered appearance and development of epiphyseal ossification centers, which commonly leads to severe osteoarthritis?

A) Multiple epiphyseal dysplasia
B) Spondyloepiphyseal dysplasia
C) Dysplasia epiphysealis hemimelica
D) Chondrodysplasia punctata

Question 7

Homocystinuria shares many common imaging and clinical findings with which of the following conditions?

A) Klippel-Feil syndrome
B) Marfan syndrome
C) Down syndrome
D) Ellis-van Creveld syndrome

Question 8

Which of the following is the most common gastrointestinal anomaly in patients with Down syndrome?

A) Duodenal atresia
B) Gastric ulcer
C) Hiatal hernia
D) Diverticulitis

Question 9

Which of the following roentgenometric assessments would be useful in assessing femoral displacement?

A) Skinner's line
B) Shenton's line
C) Ullmann's line
D) Chamberlain's line

Question 10

An autosomal dominant connective tissue disorder in which affected individuals are tall and thin, with gracile limbs and generalized joint laxity describes __________ .

A) melorheostosis
B) osteogenesis imperfecta
C) Marfan syndrome
D) Turner syndrome

Question 11

Which of the following conditions displays radiographic findings including wormian bones, clavicular deformity, delayed closure of the symphysis pubis, and supernumerary epiphyses?

A) Cleidocranial dysplasia
B) Diastrophic dysplasia
C) Achondroplasia
D) Epiphyseal dysplasia

Question 12

Radiographic findings of supernumerary epiphyses in the hands and feet, severe kyphoscoliosis, and narrowed interpediculate distance in the spine, especially in the lumbar region, would lead a clinician to suspect __________.

A) diastrophic dysplasia
B) achondroplasia
C) epiphyseal dysplasia
D) cleidocranial dysplasia

Question 13

Which of the following is a localized form of an epiphyseal dysplasia?

A) Dysplasia epiphysealis hemimelica
B) Chondrodysplasia punctata
C) Multiple epiphyseal dysplasia
D) Spondyloepiphyseal dysplasia

Question 14

The condition that displays generalized platyspondyly with endplate irregularities and classic "heaped up" endplates with trunk dwarfism is __________.

A) achondroplasia
B) spondyloepiphyseal dysplasia
C) Down syndrome
D) Van Buchem disease

Question 15

Which of the following is a characteristic of cleidocranial dysplasia?

A) Bullet-shaped vertebrae at the thoracolumbar junction
B) Only effects the clavicle and skull
C) Supernumerary and anomalous teeth
D) Severe kyphoscoliosis

Question 16

Which of the following is characteristic of Klippel-Feil syndrome?

A) Commonly shows congenital non-segmentation of C2-C3
B) Affects men 10 times more often than women
C) Displays an accumulation of methionine in the tissues
D) Displays intracranial calcifications in up to 85% of patients

Question 17

Which of the following is an uncommon diagnostic imaging finding in a patient with homocystinuria?

A) Osteopenia
B) Arachnodactyly
C) Genu valgum
D) Severe kyphosis

Question 18

Cerebellar tonsils projecting significantly below the foramen magnum extending into the upper cervical canal describes __________.

A) Arnold-Chiari malformation
B) melorheostosis
C) Sprengel deformity
D) Menke syndrome

Question 19

Dysplasia epiphysealis hemimelica is also known as __________.

A) Morquio syndrome
B) Trevor disease
C) Conradi-Hünermann syndrome
D) Ellis-van Creveld syndrome

Question 20

Chondroectodermal dysplasia is also known as __________.

A) Blount disease
B) dysplasia epiphysealis hemimelica
C) Conradi-Hünermann syndrome
D) Ellis-van Creveld syndrome

Question 21

Which of the following conditions is most likely the underlying cause of easily fractured bones, blue sclera, abnormal dentition, wormian bones, and abnormal spinal curvatures?

A) Osteopetrosis
B) Osteogenesis imperfecta
C) Scheuermann disease
D) Ellis-van Creveld syndrome

Question 22

Predict the rate of complete clavicle agenesis in a patient with radiographic findings of wormian bones, delayed closure of the symphysis pubis, supernumerary epiphyses, and anomalous dentition.

A) 5%
B) 10%
C) 15%
D) 25%

Question 23

The pathological manifestations of osteopetrosis is related to __________.

A) increased osteoclastic activity
B) decreased osteoclastic activity
C) increased osteoblastic activity
D) decreased osteoblastic activity

Question 24

Which of the following is an autosomal recessive disorder that demonstrates generalized sclerosis of bone, short stature without true dwarfism, and dysplasia of the terminal tufts of the phalanges?

A) Osteogenesis imperfecta
B) Scheuermann disease
C) Klippel-Feil syndrome
D) Pyknodysostosis

Question 25

Which of the following best defines Putti triad as seen in patients with developmental dysplasia of the hip?

A) Medial displacement of the femur, small or radiographically invisible femoral capital epiphyses, increased acetabular angle
B) Medial displacement of the femur, hypertrophic femoral capital epiphyses, decreased acetabular angle
C) Lateral displacement of the femur head, small or radiographically invisible femoral capital epiphyses, decreased acetabular angle
D) Lateral displacement of the femur head, small or radiographically invisible femoral capital epiphyses, increased acetabular angle

Question 26

Which of the following conditions demonstrates radiographic findings of multilevel endplate irregularities, Schmorl nodes, disc space narrowing, decreased anterior vertebral height, and hyperkyphosis of the thoracic spine?

A) Scheuermann disease
B) Klippel-Feil syndrome
C) Pyknodysostosis
D) Osteopetrosis

Question 27

Which of the following diseases is most radiographically similar to pyknodysostosis?

A) Scheuermann disease
B) Osteopetrosis
C) Osteogenesis imperfecta
D) Van Buchem disease

Question 28

Frontal and occipital bossing, micrognathia, thinned portions of the calvarium, distal tuft hypoplasia, multiple wormian bones, and sclerosis of the spine are common radiographic findings associated with __________.

A) pyknodysostosis
B) osteogenesis imperfecta
C) Scheuermann disease
D) Klippel-Feil syndrome

Question 29

A 34-year-old male patient exhibits physical exam findings of short neck, low hairline, and decreased cervical ranges of motion. Which of the following is likely present on radiographic examination?

A) Soft tissue calcifications
B) Os odontoidium
C) Multiple block vertebrae
D) Cone-shaped thorax

Question 30

What percentage of Down syndrome patients demonstrate congenital laxity of the transverse portion of the cruciate ligament of C1?

A) 1% to 5%
B) 6% to 10%
C) 11% to 20%
D) 21% to 30%

Question 31

Which of the following best explains sudden onset of chest pain in a tall, thin patient with gracile limbs, generalized joint laxity, and myopia?

A) Aortic root dilatation
B) Dissecting aortic aneurysm
C) Mitral regurgitation
D) Pneumomediastinum

Question 32

Van Buchem disease is characterized by which of the following?

A) Symmetric sclerosis and cortical thickening
B) Short fourth metacarpal
C) Anterior vertebral body wedging
D) Developmental spinal canal stenosis

Question 33

When are most cases of achondroplasia diagnosed?

A) Birth
B) Infancy
C) Adolescence
D) Early adulthood

Question 34

Identify the term most associated with the classic vertebral shape of achondroplastic dwarfs.

A) Bullet
B) Butterfly
C) Heaped up
D) Beaked

Question 35

What finding would best differentiate a child with genu varum due to hypoplastic medial tibial plateau as having chondroectodermal dysplasia as opposed to Blount disease?

A) Wormian bones
B) Basilar invagination
C) Hexadactyly
D) Trident hand

Question 36

What diagnosis best accounts for a child with cutaneous scars and burns, and joint findings of destruction, disorganization, diminished joint space and intraarticular debris, all of which are unnoticed by the patient?

A) Ellis-van Creveld syndrome
B) Holt-Oram syndrome
C) Congenital indifference to pain
D) Cleidocranial dysplasia

Question 37

Radiological findings of a short fourth metacarpal, cubitus valgus, pes cavus, and Madelung deformity are seen with which of the following conditions?

A) Turner syndrome
B) Achondroplasia
C) Homocystinuria
D) Diastrophic dysplasia

Question 38

Which of the following is characteristic of melorheostosis?

A) Distributed across multiple myotomes
B) Typically involves the axial skeleton
C) Confined to bone tissue
D) Hyperostosis may extend across joints

Question 39

Which of the following radiographic findings would help differentiate an os odontoideum from an acute dens fracture?

A) Disruption of the spinolaminar line at C1/C2 on flexion
B) ADI of 7 mm
C) Hypertrophy and sclerosis of the anterior tubercle of the atlas on lateral view
D) A jagged cortical margin at the inferior aspect of the dens

Question 40

Macrocephaly, J-shaped sella turcica, widened diploic space, anterior beak of a vertebral body at the thoracolumbar junction, and macroglossia are all identified in patients with __________.

A) melorheostosis
B) mucopolysaccharidoses
C) Scheuermann disease
D) Van Buchem disease

Question 41

Which syndrome is most commonly associated with developing vertebrae that are oval in shape with centrally-located beak-like anterior appearance?

A) Hunter
B) San Filippo
C) Hurler
D) Morquio

Question 42

A tall, thin 20-year-old male patient presents with physical exam findings of arachnodactyly, pectus excavatum, genu valgus, and inferior lens subluxation. What substance is likely to be discovered in the urine?

A) Homocystine
B) Homogentisic acid
C) Hydroxyproline
D) Alkaline phosphatase

Question 43

Which of the following diagnoses best accounts for thoracic spine pain in a teenage patient with radiographic findings of multilevel endplate irregularities, disc space narrowing, and thoracic hyperkyphosis?

A) Traumatic compression fracture
B) Scheuermann disease
C) Nonsuppurative osteomyelitis
D) Degenerative disc disease

Question 44

Radiographs of a patient with clinical findings of cervical myelopathy demonstrate spinolaminar line disruption C1-C2 with anterior displacement of C1 on flexion, hypertrophic anterior tubercle of C1, and normal atlantodental interval. What is the most likely diagnosis?

A) Transverse ligament laxity
B) Acute dens fracture
C) Down syndrome
D) Os odontoidium

Question 45

Which in the following best differentiates a patient with endplate irregularities as having the diagnosis of spondyloepiphyseal dysplasia as opposed to Scheuermann disease?

A) Schmorl nodes
B) Osteopenia
C) Short-trunk dwarfism
D) Arachnodactyly

Question 46

Delayed and irregular ossification with bilateral and symmetrical stippled epiphyseal calcifications involving the spine, pelvis, tarsal and carpal regions, and patellae is characteristic of __________.

A) spondyloepiphyseal dysplasia
B) chondrodysplasia punctata
C) dysplasia epiphysealis hemimelica
D) Ellis-van Creveld syndrome

Question 47

Radiographic examination of an 18-year-old female patient with hand pain demonstrates a short fourth metacarpal. Which of the following syndromes is most likely if this patient also discloses history of ovarian dysgenesis and horseshoe kidney?

A) Klinefelter
B) Turner
C) Hurler
D) Hunter

Question 48

Distribution of the thick, wavy periosteal new bone discovered on radiographic examination of an adult patient with lower limb pain is likely to be along a __________.

A) spinal scleratome
B) peripheral nerve
C) dermatome
D) fascial plane line

Question 49

Which of the following examinations is generally the initial diagnostic imaging modality in assessment of Scheuermann disease?

A) Computed tomography
B) Magnetic resonance imaging
C) Conventional radiography
D) Nuclear scintigraphy

Question 50

What radiographic feature observed in patients with osteopetrosis is produced by persistence of infantile bone matrix within the medullary cavity?

A) Endplate sclerosis
B) Metaphyseal overtubulation
C) Homogenous bone sclerosis
D) Bone within a bone appearance

Question 51

Which is the following is most likely present in a patient with easily fractured bones, blue sclera, and joint hypermobility?

A) Early calvarial ossification
B) Normal dentition
C) Normal stature
D) Deafness