Guess the diagnosis - year 2 med

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1. 30yr woman presenting with loss of libido and early menopause. FHx: child with hypotonia, seizures and scoliosis

  • Fragile X associated premature ovarian insufficiency
  • Fragile X syndrome
  • Klinfelters syndrome
  • Fragile X associated tremor/ataxia syndrome
  • Turners syndrome
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2. child presenting with developmental delay. upon examination: long face, prominent ears and jaw. FHx. seizures, hypotonia

  • Fragile X associated premature ovarian insufficiency
  • Fragile X syndrome
  • Fragile X associated tremor/ataxia syndrome

3. 60 yr old male presenting with intention tremor. FHx: mother with early menopause, niece under investigation for behavioural issues, reflux and joint laxity.

  • parkinsons
  • Huntingtons
  • Fragile X associated tremor/ataxia syndrome
  • Multiple scelorosis
  • Fragile X syndrome

4. infant presenting with failure of growth. upon examination: triangular face, frontal bossing, body assymetry and macroencephaly.

  • Prader willi syndrome
  • Leber hereditary optic neuropathy
  • Silver Russle syndrome
  • Anglemann syndrome
  • Beckwith-wiedemann syndrome
  • Myoclonic Epilepsy associated with ragged red fibres
  • Fragile X syndrome

5. infant presenting with macrosomia, macroglossia, hemihypertrophy, omphalocele and ear creases/pits. Hx of neonatal hypoglycaemia. FHx: embryonal tumours, renal abnormalities

  • Beckwith-wiedemann syndrome
  • Fragile X syndrome
  • Prader willi syndrome
  • Anglemann syndrome
  • Silver Russle syndrome
  • Leber hereditary optic neuropathy
  • Myoclonic Epilepsy associated with ragged red fibres
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