Fabry's disease physical examination: Difference between revisions
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(Created page with "{{Fabry's disease}} {{CMG}} ==Overview== ==Physical Examination== ===Appearance=== *Severe growth retardation *Extreme mental and motor retardation ===Vital Signs=== ...") |
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*Male [[infertility]] | *Male [[infertility]] | ||
*[[Priapism]] | *[[Priapism]] | ||
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Revision as of 18:57, 22 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Physical Examination
Appearance
- Severe growth retardation
- Extreme mental and motor retardation
Vital Signs
- Irregularly irregular pulse may be present from cardiac arrhythmias
- Blood pressure may be raised
- Pyrexia of unknown origin
Skin
Head
- Neck retraction
Eyes
- Decreased visual acuity: Loss of vision or blurring of vision
- Corneal opacities
- Fundoscopy:
- Retinal pathology may be found
Ear
- Sensorineural hearing loss may be present
Heart
- Palpation:
- Auscultation:
- S3 may be heard
- Holosystolic murmur from mitral regurgitation
Abdomen
Extremities
Neurologic
- Mental retardation
- Growth retardation
- Gradual loss of intellect
- Motor retardation
- Ataxia
- Seizures
- Spasticity
- Peripheral neuropathy
Other
- Fractures from osteoporotic bone
- Delayed puberty: lack of development of secondary sexual characteristics
- Male infertility
- Priapism