Table 6.

SALL1-Related Townes-Brocks Syndrome: Recommended Surveillance

System/ConcernEvaluationFrequency
Gastrointestinal Assessment for constipationAt each visit
Hearing Audiology evalAnnually
Kidney Assessment of kidney function w/serum electrolyte concentrations, BUN, & creatinineMonitor annually in all persons w/ & w/o kidney anomalies, even if no impairment of kidney function is detected on initial exam.
Neurodevelopment
  • Monitor developmental progress & educational needs.
  • Behavioral assessment
Annually
Endocrine Assessment of growth & thyroid functionAt each visit
Eyes Ophthalmology examPer ophthalmologist

BUN = blood urea nitrogen

From: SALL1-Related Townes-Brocks Syndrome

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