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Achondroplasia (Clinical
presentation (Large head, Short stature, Frontal…
Achondroplasia
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Diagnosis
Examination
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General exam
Dysmorphic features (frontal bossing, depressed
nasal bridge, large head, short limbs, short wide hands)
Investigations
Bedside
Measurements (height, weight, BMI)
Centile charts
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Imaging
X-rays: short long bones, wide epiphyses
History
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PC/HPC
Delayed gross motor milestones,
short for age, disproportionate features
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SH
Living arrangements, school/nursery,
diet, exercise
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Pathophysiology
Defect
AD, often new mutations
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Management
Conservative
Information, advice, support
Physiotherapy, occupational therapy
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