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Congenital Conditions > Congenital anomalies > Flashcards

Congenital anomalies Flashcards

1
Q

Which condition’s most common spinal finding is C2/3 fusion?

A

Craniofacial dysostosis

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2
Q

What’s an aka for craniofacial dysostosis?

A

Crouzon’s disease

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3
Q

What is the clinical eye finding found with Treacher-Collins syndrome?

A

antimongoloid slant to eyes

btw, aka for Treacher-Collins syndrome is mandibulofacial dysostosis

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4
Q

Which cranial tumor is most common in Gorlin’s syndrome?

A

medulloblastomas

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5
Q

Which clinical feature defines Golin’s syndrome?

A

multiple basal cell carcinomas/epithiomas

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6
Q

Which two mandibular cysts are common in Gorlin’s syndrome?

A

dentigerous cysts & odontogenic keratocysts

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7
Q

The clinical presentation of infantile cortical hyperostosis includes?

A

before 5months; tender soft tissue swelling, palpable hard mass over involved bones

remits with corticosteroid therapy

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8
Q

Which bones are most commonly affected in Caffey’s disease?

A

mandible, ribs (lat aspect), clavicle, long bones (esp. ulna), scapula

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9
Q

Which features differentiate Caffey’s disease from hypervitaminosis A?

A

hypervit A – occurs after 1yoa, facial/mandibular involvement is rare, likes small tubular bones (eg. hands & feet)

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10
Q

What % of Chiari I individuals have hydrosyringomyelia?

A

60-70%

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11
Q

What are the radiographic features of Menke’s (kinky hair) syndrome?

A

osteopenia, metaphyseal (tibial & femoral) spurs, wormian bones (lambdoid suture), wooly-appearing ossification centers, posterior VB scalloping, cerebral vasculature tortuosity

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12
Q

What is Meyer’s dysplasia and how do you differentiate it from LCP?

A

its an epiphyseal dysplasia of the femoral capital epiphysis where normal ossification takes place at 2yoa (normally 6months); its bilateral symmetric 50%

DDx with LCP b/c Meyer’s has normal bone scan and MR signal

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13
Q

Pachydermoperiostosis is another name for?

A

Primary hypertrophic osteoarthropathy

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14
Q

What is an aka for pyknodysostosis and what radiographic features are key to the condition?

A

Toulouse-Lautrec

  • dwarfism
  • acro-osteolysis distal clavicles & phalanges
  • spool-shaped VB
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15
Q

Aka for primary acro-osteolysis of phalanx and where does it resorp the bone?

A

Hajdu-Cheney

Resorption of mid-portion of distal phalanx.

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16
Q

What are the clinical findings seen in Achondroplasia?

A
  • rhizomelic micromelia
  • large head
  • prominent forehead
  • depressed nasal bridge
  • protuberant abdomin + prominent buttocks
  • trident hands
  • posterior tilt of pelvis (rolling gait)
  • genu varum
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17
Q

What % of achondroplastic patients develop spinal neurologic sx?

A

40-50%

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18
Q

What are the imaging findings seen with achondroplasia?

A
  • brachycephaly
  • small foramen magnum
  • HYDROCEPHALUS
  • basilar impression
  • narrowing interpedicular
  • short, thick pedicles
  • bullet-head shaped (bullet nose)
  • increased disc space
  • squared iliac bones
  • small sacrosciatic notches
  • flat acetabular angles (champagne glass pelvis)
  • tibiotalar slant
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19
Q

What are the 4 types of chondrodysplasia punctata?

A

1) Rhizomelic
2) Conradi-Hunermann
3) X-linked recessive type
4) Tibia-Metacarpal type

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20
Q

What are the clinical and radiographic features of the rhizomelic form of chondrodysplasia punctata?

A

Clinical:

  • bilateral rhizomelic extremity shortening
  • mental retardation
  • think/scaly/dry skin
  • death in 1st year d/t failure to thrive or recurrent infection

Radiographic:

  • stippled epiphysis
  • coronal clefts in VB
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21
Q

How is the Coradi-Hunermann form of chondrodysplasia punctata different from the rhizomelic form?

A
  • Normal intelligence

- Normal life expectancy

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22
Q

What is metatrophic dwarfism and what are the radiographic features of this condition?

A

Changing dwarfism (normal at birth but develop short trunk later in life). They have skin fold over their sacrum (tail-like).

Radiographic:

  • trumpet/dumbbell shaped tubular bones
  • battleaxe appearance to trochanters (makes it larger)
  • clover leaf skull
  • bullet-shaped VB
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23
Q

What is diastrophic dwarfism? What are the clinical features? What are the radiographic features?

A

“Twisted” “Crooked”

Clinical:

  • Thumbs & great toes held in hitchhiker’s position
  • deformed earlobes b/c of cystic masses

Radiographic:

  • shortening of ulna and fibular
  • valgus hindfood and metatarsus adduction
  • narrowing of interpedicular distance L/S
  • calcification pinna of ear & airway cartilage
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24
Q

Which condition has a flattened U or H shaped vertebral body as seen on the frontal views?

A

Thanatophoric dwarfism

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25
Q

What are the clinical and radiographic features of thanatophoric dwarfism?

A

Clinical:

  • numerous skin folds (Michelin man)
  • rhizomelic dwarfism

Radiographic:

  • telephone receiver-like femora
  • U or H shaped VB
  • rectangular iliac bones
  • clover-leaf skull
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26
Q

What is an aka for chondroectodermal dysplasia?

A

Ellis-van Creveld syndrome

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27
Q

What are the clinical and radiographic features of ellis-van creveld?

A

Clinical:

  • cardiac defects (ASD)
  • renal anomalies
  • hydrocephalus
  • death in childhood = common

Radiographic:

  • carpal fusion
  • extra carpals
  • enlarged (drumstrick) proximal radius & ulna
  • MEDIAL TIBIAL DIAPHYSEAL EXOSTOSIS
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28
Q

What is an aka for Asphyxiating thoracic dysplasia? What is the common cause of death in these individuals?

A

Jeune

Death from pulmonary hypoplasia or progressive renal disease.

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29
Q

What are the radiographic features of Jeune dysplasia?

A
  • narrow thorax
  • wide, irregular costochondral jnx
  • high clavicles w/ handlebar appearance
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30
Q

What are the 2 forms of chondroepiphyseal dysplasia?

A

Congenital & tarda

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31
Q

What are the differences btwn the congenital & tarda forms of chondroepiphyseal dysplasia (radiographic or clinical)?

A

Congenital =

  • bell-shaped chest
  • pear-shaped VB

Tarda
- heaped up VB

Similarities:

  • hypoplasia of the dens => C1/2 instability
  • platyspondyly
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32
Q

Other than the wormian bones appearance, what skull finding is seen in cleidocranial dysplasia?

A
  • Hot-cross bun appearance => widening of coronal and sagittal sutures
  • persistent metopic suture
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33
Q

What are the clinical features associated with cleidocranial dysplasias?

A
  • poorly formed, supernumerary teeth
  • frequent caries
  • abnormal ear ossicles => hearing loss
  • respiratory distress d/t narrow cone-shaped thorax
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34
Q

What are the radiographic features of cleidocranial dysplasia?

A
  • lateral notching of femoral capital epiphysis
  • supernumerary ephiphysis
  • platybasia/basilar impression
  • midline defects
35
Q

Which is the most severe type of metaphyseal chondrodysplasia and what features does it have that are similar to hyperparathyroidism?

A

Jansen

- subperiosteal bone resorption & fx

36
Q

The Schmid type of metaphyseal chondrodysplasia may be confused with which other condition?

A

Non-accidental trauma

37
Q

Aka for multiple epiphyseal dysplasia?

A

Fairbank’s disease

38
Q

What is the etiology of Fairbank’s disease and what are some of its key features?

A

Defect in chondroitin sulfate => delayed and disorderly ossification of epiphysis

  • double patella => two crescent-shaped ossification centers observed one inside the other => chronic dislocation
  • spine looks like Scheuermann’s
39
Q

What is an aka for Trevor’s disease?

A

Dysplasia epiphysealis hemimelica

40
Q

What is the predominant feature of Trevor’s disease and what are some of its key features?

A

Asymmetrical cartilaginous overgrowth in 1 or more epiphysis/carpal/tarsals. M/C MEDIAL SIDE.

  • intracapsular chondroma, osteochondroma affecting the epiphysis
  • multiple bones affected in one extremity 60-70% of cases
41
Q

Bayonet hand (forearm changes) is seen in what % of HME cases?

A

30%

42
Q

What is the risk of a solitary osteochondroma malignantly degenerating?
Risk of HME malignantly degenerating?

A

1% = solitary

25% = HME (Resnick says 5%)

43
Q

What is the % risk malignant degeneration of Ollier’s?

A

<25% Resnick

10% Y&R

44
Q

What is the % risk malignant degeneration of Maffucci’s?

A

25%

45
Q

What is the named faces seen with FD?

A

Leontasis ossea (or Cherubism when seen in the mandible)

46
Q

What are the boarders of the cafe-au-lait spots like in FD and how commonly do they occur in each subtype?

A

Irregular => coast of Maine
uncommon - monostotic
30-50% - polyostotic
100% - McCune Albright

47
Q

What is the occular finding seen with FD?

A

“Eyes to heaven” d/t to skin of lower eyelids retracted d/t swelling of cheeks

48
Q

What % of FD have at least one fracture?

A

85%

49
Q

Which side of the bowed bone will you see a pseudofx in FD?

A

Convex

50
Q

FD is the M/C benign lesion of which bone?

A

Ribs

51
Q

What is the triad associated with NF-1?

A

i) Cafe-au-lait spots (California)
ii) Fibroma molluscum (eg. elephantiasis)
iii) Bone changes 50% (eg. pseudoarthrosis tibia-fibula)

52
Q

Which cranial nerve is commonly involved in NF?

A

Optic n. (eg. optic glioma)

53
Q

What occular finding is seen with NF?

A

Pulsating exopthalmos d/t bare orbit (caused by agenesis/hypoplasia of posterior wall orbit, wings of sphenoid & orbital plate)

54
Q

What bone findings are seen with NF?

A
  • agenesis of orbital wall & sphenoid bone
  • radiolucent defect in calvarium (M/C LEFT) => SIGN OF ASTERION
  • ribbon ribs
  • pseudoarthrosis (inability to form callus)
  • focal gigantism
55
Q

20% of patients with pheochromocytoma have which MSK condition?

A

NF (vice versa its only 1%)

56
Q

Aka for osteopetrosis? What is the M/C/C of death?

A

Albers-Schonberg

Cause of death = massive hemorrhage, recurrent infections

57
Q

25% of osteopoikilosis cases are associated with what other condition(s)?

A

Cutaneous changes (eg. scleroderma-like changes, keloid formation)

58
Q

Aka for osteopathia striata? Which multisystem condition is this associated with?

A

Voorhoeve’s disease – associated with Goltz syndrome/focal dermal hypoplasia (remember this is associated with multiple GCTs)

59
Q

What are the key features of pyknodysostosis?

A
  • dwarfism
  • hypoplasia/absence of lateral ends of clavicle, acro-ostoelysis
  • increase in bone density!!
  • spool-shaped VB
  • spoon-shaped nails
60
Q

What is an aka for pachydermoperiostosis and what are its key features?

A

Idiopathic/primary hypertrophic osteoarthropathy

  • thickened skin
  • irregular periosteal new bone formation (diaphyseal & metaphyseal extension)
61
Q

What is an aka for diaphyseal dysplasia and what are its key features?

A

Camurati-Engelmann’s disease

  • poor muscle development
  • increased blastic activity => endosteal fusiform cortical thickening (spares metaphysis and epiphysis)
  • M/C long bones and bones of hand/feet
62
Q

What is an aka for metaphyseal dysplasia? Key feature?

A

Pyle’s disease – marked metaphyseal expansion (Erlenmeyer flask deformity)

63
Q

List 2 skin findings seen with tuberous sclerosis?

A
  • adenoma sebaceum

- shagreen patches

64
Q

What % of tuberous sclerosis have kidney involvement?

A

50%

65
Q

Clinical features & radiographic findings with Crouzon’s?

A

Clinical: craniosynostosis (lambdoid), exopthalmosis, midface retrusion

Radiographic: hypoplastic maxilla => prognathic appearing mandile

66
Q

What’s the M/C/C of death in Marfan’s patients?

A

Cardiovascular anomalies (95%) => dissection & rupture ascending aorta

67
Q

In what direction are lens dislocations in Marfan’s?

A

Superior

68
Q

Which clinical finding do Marfan patients share with OI patients?

A

blue sclera & dentition abnormalities

69
Q

What findings differentiate homocystinuria from marfan’s?

A

Homocystinuria:

  • downward lens dislocation
  • mental retardation
  • vascular thromboses (death from these too!)
  • multiple muscle contractures
70
Q

What % of Klippel-Feil syndrome is associated with sprengel’s deformity?

A

20-25% (vice versa is ~100%)

71
Q

What is Bertelotti’s syndrome?

A

Transitional segment causing scoliosis and sciatica

72
Q

What is the vertebral body radiographic sign associated with myositis ossificans progressiva?

A

Dog vertebrae (taller than wider)

73
Q

Other than blue sclera, what other eye finding is seen in OI?

A

Saturn’s ring (arcus senilis)

74
Q

What is the triad associated with Ehlers-Danlos syndrome?

A

i) joint hyperextensibility
ii) fragile blood vessels
iii) skin fragility

75
Q

What clinical systems are associated with Ehlers-Danlos?

A
  • Cardiovascular (eg. aneurysms, congenital heart defects)

- GU (eg. medullary sponge kidney)

76
Q

What is the key finding associated with progeria?

A

Antigoneial notching of mandible

77
Q

What are the radiographic findings seen with Gorland’s syndrome?

A
  • dentigerous cysts of mandible
  • shortened 4th & 5th metacarpals
  • flame-shaped cystic lucencies in phalanges
  • rib anomalies
78
Q

What is the M/C heart condition associated with Holt-Oram?

A

patent atrial septum

79
Q

What are the key features of pectoral aplasia dysdactyly syndrome (Poland’s)

A
  • absent pectoral muscles M/C on right

- syndactyly (fusion of 2+ digits)

80
Q

What is amelia?

What is hemimelia?

A 
Amelia = congenital complete absence of a limb/limbs
Hemimelia = absence of all or part of distal half of limb
81
Q

What are the key features of Nail-Patella syndrome?

A
  • iliac horns
  • absent patella
  • dysplastic fingernails
82
Q

What are the 2 most essential features of Proteus syndrome?

A

i) region gigantism

ii) hymphangiomatous hamartomas

83
Q

Which cranial finding is commonly associated with Proteus syndrome? Which lesion that resembles a tumor is also associated in the first few years?

A

Macrocephaly

Osteochondroma-like lesions

Congenital Conditions (1 decks)

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