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Fanconi anaemia (Clinical
presentation (Short stature, Skeletal…
Fanconi anaemia
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Diagnosis
Examination
General
Microcephaly, microphthalmia,
strabismus, skeletal abnormalities,
cryptorchidism
Developmental
Global delay, low IQ
Investigations
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Bloods
FBC (Hb and reticulocytes may be normal/low),
Fe studies (normal), U+E, LFT
History
PC/HPC
Dysmorphic features,
developmental delay
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FH
Fanconi anaemia, other
inherited RBC syndromes
SH
Living arrangements,
nursery/school
Management
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Conservative
Information, advice, support
Genetic counselling (families)
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Pathophysiology
Defect
AR, may be X-linked
FANC genes
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