What is the role of imaging studies in the workup of Smith-Lemli-Opitz syndrome (SLOS)?

Updated: Jan 27, 2021
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

See the list below:

  • Brain MRI or CT scanning may reveal structural brain malformations.

  • Renal ultrasonography may be useful in identifying renal anomalies.

  • Abdominal ultrasonography may help identify or rule out pyloric stenosis.

  • Barium swallow may help identify or rule out pyloric stenosis.

  • Abdominal radiography may be useful when Hirschsprung disease is suspected.

  • Barium enema may be useful when Hirschsprung disease is suspected.

  • Chest radiography is important in looking for congenital heart disease and/or congenital pulmonary abnormalities.

  • Genitourinary ultrasonography may be important in identifying genitourinary anomalies.


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