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Medical Sciences B > Congenital disorders of bone and cartilage > Flashcards

Congenital disorders of bone and cartilage Flashcards

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USMLE® Step 1 flashcards
1
Q

List the developmental and congenital anomalies of the cervical spine

A
  • occipitalisation
  • posterior ponticle
  • odontoid anomalies
  • block vertebra
  • cervical ribs
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2
Q

List the developmental and congenital anomalies of the thoracic spine

A
  • venous channels of Hahn
  • schmorl’s nodes
  • hemi-vertebra
  • spina bifida occulta
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3
Q

List the developmental and congenital anomalies of the lumbar spine

A
  • sacralisation
  • lumbarisation
  • spina bifida occulta
  • spina bifida cystica
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4
Q

What is occipitalisation?

A

fusion of occiput and C1

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5
Q

What is posterior ponticle?

A

lateral mass C1 fused to posterior arch

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6
Q

What are the odontoid anomalies?

A
  • failure of fusion
  • hypoplastic
  • agenesis
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7
Q

What is block vertebra?

A

fusion of vertebra

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8
Q

What are issues of cervical ribs?

A

extra ribs that attach to C7 TVPs

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9
Q

What is venous channels of Hahn?

A

identifiable passage of basivertebral vein -normal

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10
Q

What are schmorl’s nodes?

A

herniation of the nucleus pulpous into the vertebral body

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11
Q

What is sacralisation?

A

fusion of L5 and sacrum

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12
Q

What is lumbarisaion?

A

failure of fusion of S1

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13
Q

What is spina bifida occulta?

A
  • failure of union of lamina and SP
  • any segment, but more common in transitional segments
  • most common L5/S1
  • no clinical significance
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14
Q

What is spina bifida cystica?

A
  • failure of fusion
  • large defect
  • meninges or spinal cord protrude
  • if spinal cord: disturbance in orthopaedic, neurological, urological function
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15
Q

meningeocele

A

protrusion of meninges out of spina bifida

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16
Q

myelomeningocele

A

protrusion of spinal cord out of spina bifida

17
Q

List the congenital disorders of bone and cartilage

A
  • Developmental and congenital anomalies of spine

* Skeletal dysplasias

18
Q

What is the definition of skeletal dysplasia?

A
  • abnormality of growth and development of cartilage and bone, resulting in altered structure of skeleton
  • many are hereditary and congenital
19
Q

What is achondroplasia?

A
  • autosomal dominant defect of FGFR3 (fibroblast growth receptor)
  • abnormal epiphyseal cartilage formation and maturation
  • ossification centres of long bones and base of skull most effected
  • rhizomella
  • large head, prominent forehead, flat nasal bridge
  • stenosis (spinal and foramen magnum)
20
Q

What is Marfan’s syndrome?

A
  • autosomal dominant
  • connective tissue disorder of fibrin 1
  • poor quality collagen
  • skeletal, ocular, cardiovascular systems
  • common: 6/100 000
  • long tubular bones (phalanges, metatarsals, metacarpals); lower limbs most
  • tall, thin
  • joint laxity, dislocations, genu recurvatum, pes planus
  • dolichocephaly: long face, arched palate, prominent jaw
  • Atlanta-axial instability
  • ocular: lens dislocation, retina detached, cataracts, myopia, absent dilator muscles
  • congenital heart: aneurysms, valve disease
21
Q

What is the consequence of foramen magnum stenosis?

A
  • lower brainstem compression
  • apnoea
  • hydrocephalus
22
Q

What is arthrochalasia multiplex congenital?

A

another name for Ehlers-Danlos syndrome

23
Q

What is Ehlers-Danlos Syndrome?

A
  • group of connective tissue disorders (type 1, 3 or 5 collagen)
  • autosomal dominant and recessive types
  • may affect msk, ocular, bronchopulmonary, genitourinary, cardio, alimentary and CNS
  • white, European males
  • joint hypermobilyt, laxity, genu recurvatum, pes planus
  • poor dentition
  • skin hyperelasticity
  • vascular fragility
  • blue sclera (visible choroid, thin sclera)
  • congenital heart disorders, pneumothorax, kidney, bowel haemorrhage
24
Q

What is osteogenesis imperfect?

A
  • brittle bone disease
  • connective tissue disorders (type 1 collagen)
  • autosomal dominant and recessive
  • qualitative and quantitative collagen defects
  • females a bit more
  • osteoporosis
  • ligament laxity
  • growth retardation
  • blue sclera
  • bleeding tendencies
25
Q

What is osteopetrosis?

A
  • rare
  • hereditary
  • increased bone density
  • lack of primitive bone tissue resorption inhibits formation of medullary canal
  • weak bones
  • severe anaemia, hepatosplenomegaly, lymphadenopahty, thrombocytopenia, recurrent infections, leukaemia

Medical Sciences B (23 decks)

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