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Flashcards in Congenital anomalies Deck (83)
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1

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

Craniofacial dysostosis

2

What's an aka for craniofacial dysostosis?

Crouzon's disease

3

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

antimongoloid slant to eyes

(btw, aka for Treacher-Collins syndrome is mandibulofacial dysostosis)

4

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

medulloblastomas

5

Which clinical feature defines Golin's syndrome?

multiple basal cell carcinomas/epithiomas

6

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

dentigerous cysts & odontogenic keratocysts

7

The clinical presentation of infantile cortical hyperostosis includes?

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

remits with corticosteroid therapy

8

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

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

9

Which features differentiate Caffey's disease from hypervitaminosis A?

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

10

What % of Chiari I individuals have hydrosyringomyelia?

60-70%

11

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

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

12

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

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

13

Pachydermoperiostosis is another name for?

Primary hypertrophic osteoarthropathy

14

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

Toulouse-Lautrec

- dwarfism
- acro-osteolysis distal clavicles & phalanges
- spool-shaped VB

15

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

Hajdu-Cheney

Resorption of mid-portion of distal phalanx.

16

What are the clinical findings seen in Achondroplasia?

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

17

What % of achondroplastic patients develop spinal neurologic sx?

40-50%

18

What are the imaging findings seen with achondroplasia?

- 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

19

What are the 4 types of chondrodysplasia punctata?

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

20

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

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

21

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

- Normal intelligence
- Normal life expectancy

22

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

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

23

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

"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

24

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

Thanatophoric dwarfism

25

What are the clinical and radiographic features of thanatophoric dwarfism?

Clinical:
- numerous skin folds (Michelin man)
- rhizomelic dwarfism

Radiographic:
- telephone receiver-like femora
- U or H shaped VB
- rectangular iliac bones
- clover-leaf skull

26

What is an aka for chondroectodermal dysplasia?

Ellis-van Creveld syndrome

27

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

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

28

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

Jeune
Death from pulmonary hypoplasia or progressive renal disease.

29

What are the radiographic features of Jeune dysplasia?

- narrow thorax
- wide, irregular costochondral jnx
- high clavicles w/ handlebar appearance

30

What are the 2 forms of chondroepiphyseal dysplasia?

Congenital & tarda

31

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

Congenital =
- bell-shaped chest
- pear-shaped VB

Tarda
- heaped up VB

Similarities:
- hypoplasia of the dens => C1/2 instability
- platyspondyly

32

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

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

33

What are the clinical features associated with cleidocranial dysplasias?

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

34

What are the radiographic features of cleidocranial dysplasia?

- lateral notching of femoral capital epiphysis
- supernumerary ephiphysis
- platybasia/basilar impression
- midline defects

35

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

Jansen
- subperiosteal bone resorption & fx

36

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

Non-accidental trauma

37

Aka for multiple epiphyseal dysplasia?

Fairbank's disease

38

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

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

What is an aka for Trevor's disease?

Dysplasia epiphysealis hemimelica

40

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

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

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

30%

42

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

1% = solitary

25% = HME (Resnick says 5%)

43

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

<25% Resnick
10% Y&R

44

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

25%

45

What is the named faces seen with FD?

Leontasis ossea (or Cherubism when seen in the mandible)

46

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

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

47

What is the occular finding seen with FD?

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

48

What % of FD have at least one fracture?

85%

49

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

Convex

50

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

Ribs

51

What is the triad associated with NF-1?

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

52

Which cranial nerve is commonly involved in NF?

Optic n. (eg. optic glioma)

53

What occular finding is seen with NF?

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

54

What bone findings are seen with NF?

- 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

20% of patients with pheochromocytoma have which MSK condition?

NF (vice versa its only 1%)

56

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

Albers-Schonberg

Cause of death = massive hemorrhage, recurrent infections

57

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

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

58

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

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

59

What are the key features of pyknodysostosis?

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

60

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

Idiopathic/primary hypertrophic osteoarthropathy

- thickened skin
- irregular periosteal new bone formation (diaphyseal & metaphyseal extension)

61

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

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

What is an aka for metaphyseal dysplasia? Key feature?

Pyle's disease -- marked metaphyseal expansion (Erlenmeyer flask deformity)

63

List 2 skin findings seen with tuberous sclerosis?

- adenoma sebaceum
- shagreen patches

64

What % of tuberous sclerosis have kidney involvement?

50%

65

Clinical features & radiographic findings with Crouzon's?

Clinical: craniosynostosis (lambdoid), exopthalmosis, midface retrusion

Radiographic: hypoplastic maxilla => prognathic appearing mandile

66

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

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

67

In what direction are lens dislocations in Marfan's?

Superior

68

Which clinical finding do Marfan patients share with OI patients?

blue sclera & dentition abnormalities

69

What findings differentiate homocystinuria from marfan's?

Homocystinuria:
- downward lens dislocation
- mental retardation
- vascular thromboses (death from these too!)
- multiple muscle contractures

70

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

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

71

What is Bertelotti's syndrome?

Transitional segment causing scoliosis and sciatica

72

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

Dog vertebrae (taller than wider)

73

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

Saturn's ring (arcus senilis)

74

What is the triad associated with Ehlers-Danlos syndrome?

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

75

What clinical systems are associated with Ehlers-Danlos?

- Cardiovascular (eg. aneurysms, congenital heart defects)
- GU (eg. medullary sponge kidney)

76

What is the key finding associated with progeria?

Antigoneial notching of mandible

77

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

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

78

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

patent atrial septum

79

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

- absent pectoral muscles M/C on right
- syndactyly (fusion of 2+ digits)

80

What is amelia?
What is hemimelia?

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

81

What are the key features of Nail-Patella syndrome?

- iliac horns
- absent patella
- dysplastic fingernails

82

What are the 2 most essential features of Proteus syndrome?

i) region gigantism
ii) hymphangiomatous hamartomas

83

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

Macrocephaly

Osteochondroma-like lesions