Table 5.

Recommended Surveillance for Individuals with EDD-Related Overgrowth

System/ConcernEvaluationFrequency/Comment
Neurologic Developmental assessmentsAt routine intervals, to adjust therapies & adapt educational needs
Assessment by a neurologistPer routine for persons w/epilepsy
Screening for cervical spine instability 1 / spinal stenosisAs dictated by signs & symptoms; see also footnote 1.
Musculoskeletal Evaluate for scoliosis & spine deformities.At each visit
Joint contracturesPhysiotherapy, surgery as necessary
Eyes Ophthalmologist to screen for refractive errors, myopia, & strabismusAt routine intervals
Endocrine Glucose/insulin levelsHyperinsulinemic hypoglycemia confirmed in 2 patients (1 as a neonate); evidence of poor neonatal adaptation suggests glucose should be checked.
1.

Though to date data are insufficient to recommend routine imaging of the cervical spine to screen for atlantoaxial instability, practitioners should have a low threshold for imaging when signs and symptoms are consistent with cord impingement (particularly when of rapid onset). Elective cervical spine imaging should be considered when activities involve possible sudden movement of the neck and/or head and neck (e.g., contact sports, amusement park thrill rides).

From: EED-Related Overgrowth

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