Table 6.

Simpson-Golabi-Behmel Syndrome Type 1: Recommended Surveillance for Males

System/ManifestationEvaluationFrequency/Comment
Eyes Ophthalmologic evalAnnually in childhood or as indicated
Hearing Audiologic eval
Respiratory Sleep studyIf history of sleep disturbance
Renal Routine monitoring of kidney functionIf renal anomalies present
Musculoskeletal Eval for scoliosisAt least annually or during periods of rapid growth
Endocrine Monitor serum glucose levels for hypoglycemia secondary to ↑ risk for hyperinsulinemia.In neonatal period
Neurodevelopment Monitor for developmental progress.At each clinic visit
Cancer predisposition Tumor screening for Wilms tumor & hepatoblastoma
  • Abdominal ultrasound & serum AFP level every 3 mos from time of diagnosis until age 4 yrs
  • Renal ultrasound every 3 mos until age 7 yrs
Tumor screening for neuroblastoma & gonadoblastomaInsufficient data to determine utility of screening in persons w/SGBS1
Follow up w/cancer predisposition specialist & physical examEvery 6 mos 1

AFP = alpha-fetoprotein; SGBS1 = Simpson-Golabi-Behmel syndrome type 1

1.

From: Simpson-Golabi-Behmel Syndrome Type 1

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