Congenital disease

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Author:
jzm4mdd
ID:
167542
Filename:
Congenital disease
Updated:
2012-10-01 05:48:54
Tags:
paeds congenital
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Description:
paeds congenital
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  1. Characot-Marie-Tooth disease
    autosomal dominant condition associated with de-innervation and results in weakness of feet and ankle muscles with gradual ascension to involve mid-thigh=

    pes cavus deformity, weakness of the lower leg with loss of muscle bulk in the calves bilaterally but normal strength of the thigh muscles. Knee and ankle reflexes are lost but there is no sensory loss initiakky
  2. Peutz-Jeghers syndrome
    • autosomal dominant
    • small intestinal polyps are hamartomas and not adenomas.
    • premalignant condition but the risk is low
    • can present as anaemia in childhood
    • circumoral pigmented lesions
  3. Diabetic mother
    • Hypoglycaemia
    • Macrosomia
    • Congenital abnormalities: Talipes; Congenital heart defects; Polycythaemia; Hypocalcaemia; sacral agenesis
    • Birth injuries/shoulder dystocia.
  4. Down's syndrome
    Low AFP
  5. Gastroschisis
    High AFP
  6. Spinal Muscular atrophy
    • AR, #5
    • Anterior horn cell disease
    • Fasciculations seen best in the resting tongue
    • Fibrillation potentials in EMG
    • Denervation pattern on a muscle biopsy.
    • Absent/decreased tendon reflexes
    • Generalised weakness
  7. Trinucleotide repeat diseases 
    • Huntington's disease
    • Myotonic dystrohpy
    • Fragile X syndrome
    • Friedreich's ataxia.
  8. Renal vein thrombosis
    • Associated with peri natal
    • sepsis, dehydration, shock. asphyxia
  9. G6PDH defi
    XLR
  10. Hereditary spherocytosis
    AD
  11. Neurofibromatosis
    AD
  12. Haemophilia A and B
    XLR
  13. Pierre-Robin
    Micrognathia; upper airway obstruction
  14. Osteogenesis Imperfecta
    • Osteopenia causing:
    •    excessive bone fragility
    •    recurrent fractures
    •    hearing impairment
    •    blue sclerae.
  15. Marfan's
    AD
  16. CF
    AR
  17. Wilson's
    AR
  18. Beta thalassaemia
    AR
  19. Xeroderma pigmentosum
    AR
  20. VACTORL
    Vertebral defects, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal anomalies, and Limb anomalies

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