To establish the extent of disease and guide management the following evaluations and clinical studies could be considered based on the limited phenotypic spectrum described to date. Additional evaluations may be considered based on clinical presentation.

  • Anthropometric parameters to detect growth restriction and micro-/macrocepaly.
  • Assessment for feeding difficulties.
  • Developmental assessment.
  • MRI of the brain to detect putative corpus callosum abnormalities.
  • Cardiac evaluation to exclude congenital heart defects.
  • Renal ultrasound to detect kidney dysplasia, cysts or hydronephrosis.

No specific recommendations for health surveillance can be made at this time. General recommendations include periodic assessment of growth and development as well as feeding problems with interventions as needed. Monitoring and treatment of organ involvement as indicated (especially cardiac and renal anomalies).