Table 9.

Recommended Surveillance for Individuals with Classic Congenital Contractural Arachnodactyly

System/ConcernEvaluationFrequency
Musculoskeletal If not present at initial eval: evaluate for kyphosis/scoliosis clinically.At least annually
If present at initial eval: monitor kyphosis/scoliosis (clinically &/or radiologically).Per treating orthopedist
Cardiovascular Measurement of aortic root diameter for evidence of aortic dilatationEvery 2 yrs until end of puberty; then every 3-5 yrs if aortic measurements are well below upper limit for age, sex, & body surface area (z-score <2) & no major valvular involvement (mitral valve prolapse)
Ocular Visual acuity & assessment of refractive errorUpon clinical guidance (or at least every 2 yrs in young children)
KeratometryEvery 3 yrs, especially in those w/difficult-to-correct refractive errors
Orthodontic From age 8 yrsAnnually

From: Congenital Contractural Arachnodactyly

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