infant presenting with macrosomia, macroglossia, hemihypertrophy, omphalocele and ear creases/pits. Hx of neonatal hypoglycaemia. FHx: embryonal tumours, renal abnormalities
Beckwith-wiedemann syndrome
1 of 9
infant presenting with failure of growth. upon examination: triangular face, frontal bossing, body assymetry and macroencephaly.
Silver Russle syndrome
2 of 9
male patient presenting with bilateral. painless, subacute visual failure. upon examination: postural tremor, normal BM. FHx: blindness
Leber hereditary optic neuropathy
3 of 9
child presenting with myoclonus after otherwise normal development. FHx: epilepsy, ataxia, weakness and dementia. ECG: WPW syndrome
Myoclonic Epilepsy associated with ragged red fibres
4 of 9
child presenting with developmental delay and "always hungry". upon examination, central obesity and hypotonia. Hx: floppy infant with poor feeding
Prader willi syndrome
5 of 9
child presenting with sever developmental delay. upon examination: seems very happy with frequent laughter, microencephally. Hx. of seizures
Anglemann syndrome
6 of 9
child presenting with developmental delay. upon examination: long face, prominent ears and jaw. FHx. seizures, hypotonia
Fragile X syndrome
7 of 9
60 yr old male presenting with intention tremor. FHx: mother with early menopause, niece under investigation for behavioural issues, reflux and joint laxity.
Fragile X associated tremor/ataxia syndrome
8 of 9
30yr woman presenting with loss of libido and early menopause. FHx: child with hypotonia, seizures and scoliosis
Fragile X associated premature ovarian insufficiency
9 of 9
Other cards in this set
Card 2
Front
infant presenting with failure of growth. upon examination: triangular face, frontal bossing, body assymetry and macroencephaly.
Back
Silver Russle syndrome
Card 3
Front
male patient presenting with bilateral. painless, subacute visual failure. upon examination: postural tremor, normal BM. FHx: blindness
Back
Card 4
Front
child presenting with myoclonus after otherwise normal development. FHx: epilepsy, ataxia, weakness and dementia. ECG: WPW syndrome
Back
Card 5
Front
child presenting with developmental delay and "always hungry". upon examination, central obesity and hypotonia. Hx: floppy infant with poor feeding
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