Congenital disorders of bone and cartilage Flashcards
List the developmental and congenital anomalies of the cervical spine
- occipitalisation
- posterior ponticle
- odontoid anomalies
- block vertebra
- cervical ribs
List the developmental and congenital anomalies of the thoracic spine
- venous channels of Hahn
- schmorl’s nodes
- hemi-vertebra
- spina bifida occulta
List the developmental and congenital anomalies of the lumbar spine
- sacralisation
- lumbarisation
- spina bifida occulta
- spina bifida cystica
What is occipitalisation?
fusion of occiput and C1
What is posterior ponticle?
lateral mass C1 fused to posterior arch
What are the odontoid anomalies?
- failure of fusion
- hypoplastic
- agenesis
What is block vertebra?
fusion of vertebra
What are issues of cervical ribs?
extra ribs that attach to C7 TVPs
What is venous channels of Hahn?
identifiable passage of basivertebral vein -normal
What are schmorl’s nodes?
herniation of the nucleus pulpous into the vertebral body
What is sacralisation?
fusion of L5 and sacrum
What is lumbarisaion?
failure of fusion of S1
What is spina bifida occulta?
- failure of union of lamina and SP
- any segment, but more common in transitional segments
- most common L5/S1
- no clinical significance
What is spina bifida cystica?
- failure of fusion
- large defect
- meninges or spinal cord protrude
- if spinal cord: disturbance in orthopaedic, neurological, urological function
meningeocele
protrusion of meninges out of spina bifida
myelomeningocele
protrusion of spinal cord out of spina bifida
List the congenital disorders of bone and cartilage
- Developmental and congenital anomalies of spine
* Skeletal dysplasias
What is the definition of skeletal dysplasia?
- abnormality of growth and development of cartilage and bone, resulting in altered structure of skeleton
- many are hereditary and congenital
What is achondroplasia?
- 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)
What is Marfan’s syndrome?
- 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
What is the consequence of foramen magnum stenosis?
- lower brainstem compression
- apnoea
- hydrocephalus
What is arthrochalasia multiplex congenital?
another name for Ehlers-Danlos syndrome
What is Ehlers-Danlos Syndrome?
- 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
What is osteogenesis imperfect?
- 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
What is osteopetrosis?
- 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
