genetic skeletal condition

inherited abnormalities -> generalised developmental disorders of bone
1. result in reduced growth & abnormality of bone shape
  1. except osteogenesis imperfecta
    1. which -> impaired strength
bones of limbs & spine affected
1. -> short stature
achondroplasia
1. autosomal dominant
  1. but 50% are new mutations
2. clinical features
  1. short stature from
    1. marked shortening of limbs
  2. a large head
  3. frontal bossing
  4. depression of nasal bridge
  5. short & broad hands
  6. marked lumbar lordosis
  7. sometimes hydrocephalus
thanatophoric dysplasia
1. -> stillbirth
2. clinical features-infants
  1. large head
  2. extremely short limbs
  3. small chest
3. X-ray has characteristic appearance
4. sporadic inheritance
5. can be IDed on antenatal US
cleidocranial dysostosis
1. autosomal dominant disorder
2. clinical features
  1. absence of part or all of clavicles
  2. delay in closure of anterior fontanelle
  3. delay in ossification of skull
  4. child often able to bring shoulder together in front of chest to touch each other
  5. short stature
  6. normal intelligence
intelligence normal
arthrogryposis
1. heterogenous group of congenital disorders
  1. stiffness & contracture of joints
2. cause unknown
  1. but assoc w/
    1. oligohydramnios
    2. widespread congenital anomalies
    3. chromosomal disorders
3. sporadic inheritance
4. clinical features
  1. marked flexion contractures
    1. knees
    2. elbows
    3. wrists
  2. dislocation of hips & other joints
  3. talipes equinovarus
  4. scoliosis
  5. can be localised to upper or lower limbs
  6. skin around affected joints
    1. thin
    2. reduced subcutaneous tissue
  7. marked mm atrophy around affected joints
  8. normal intelligence
5. Mx
  1. physiotherapy
  2. correct deformities
    1. splints
    2. plaster casts
    3. surgery
6. walking impaired in more severe forms
osteogeneisis immperfecta (brittle bone disease)
1. group of collagen metabolism disorders
  1. ->
    1. bone fragility
    2. bowing
    3. freq fractures
2. type I
  1. commonest form
  2. autosomal dominant
  3. clinical features
    1. fractures during childhood
    2. blue sclerae
    3. hearing loss
  4. Rx
    1. bisphosphonates
      1. reduce fracture rates
    2. splint fractures
      1. minimse joint deformity
  5. variable joint prognosis
3. type II
  1. severe, lethal form
  2. multiple fractures already present bfore birth
  3. variable inheritance
    1. mostly autosomal dominant or new mutations
4. scleral discolouration uncommon in other types
osteopetrosis (marble bone disease)
1. rare
2. dense but brittle bones
3. severe autosomal recessive disorder
4. presentation
  1. faiiure to thrive
  2. recurrent infection
  3. hypocalcaemia
  4. anaemia
  5. thrombocytopenia
  6. severe autosomal dominant form
    1. fractures in childhood
5. poor prognosis
  1. but bone marrow transplant can cure
Marfan syn
1. autosomal dominant
2. connective tissue disorder
3. clinical presentation
  1. tall stature
  2. long thin digits (arachnodactyly)
  3. hyperextensive joints
  4. high arched palate
  5. upwards dislocation of eye lenses
  6. severe myopia
  7. altered body proportion
    1. long thin limbs -> greater distance btw pubis & soles (lower seg) than from crown to pubis (upper seg)
    2. arm span > height
  8. chest deformity & scoliosis
4. cardiovasc probs
  1. due degen of media of vessle walls ->
    1. dilated incomp aortic root
      1. valve incompetence
    2. mitral valve prolapse & regurg
    3. aortic aneurysms
      1. dissection
      2. rupture
  2. Enter text here

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genetic skeletal condition

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	Created by v.djabatey over 10 years ago