Marfan's syndrome physical examination
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Editors-In-Chief: William James Gibson, C. Michael Gibson, M.S., M.D.
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [1] ; Assistant Editor-In-Chief: Cassandra Abueg, M.P.H. [2]
Overview
Physical Examination
Appearance of the Patient
Many individuals with Marfan Syndrome grow to above average height.
Vital Signs
Within normal limits.
Skin
- Unexplained stretch marks on the skin
Head
- Symptomatic high palates and small jaws.
Eyes
- Marfan syndrome can also seriously affect the eyes and vision. Nearsightedness and astigmatism are common, but farsightedness can also result. [1]
- Subluxation (dislocation) of the crystalline lens in one or both eyes (ectopia lentis) (in 80% of patients) also occurs and may be detected by an ophthalmologist or optometrist using a slit-lamp biomicroscope. [1]
- In Marfan's the dislocation is typically superotemporal whereas in the similar condition homocystinuria, the dislocation is inferonasal.[1]
- Sometimes eye problems appear only after the weakening of connective tissue has caused detachment of the retina.[1] Early onset glaucoma can be another related problem.
Ear
Nose
Throat
Heart
Lungs
Abdomen
Extremities
- Some have long slender limbs with fingers and toes that are also abnormally long and slender (arachnodactyly).
- An individual's arms may be disproportionately long.
- Abnormal joint flexibility
- Flat feet, stooped shoulders
Neurologic
- Some people with Marfans have speech disorders
Genitals
Other
- Abnormal curvature of the spine (scoliosis) is common, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum.