What is the role of imaging studies in the workup of Down syndrome?

Updated: Apr 30, 2018
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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Answer

Current evidence does not support performing routine screening radiographs for assessment of potential atlantoaxial instability in asymptomatic children. When obtained, skull series show evidence of flattened facial features (including small or absent nasal bones), hypoplastic sinuses, a flat occiput, microcephaly, and brachycephaly.

Cervical radiography (with lateral flexion and extension views) is required to measure the atlantodens distance and to rule out atlantoaxial instability at the age of 3 years. Radiography is also used before administering anesthesia if signs suggest spinal cord compression. Magnetic resonance imaging (MRI) is also recommended regularly for evaluation.

Reduced iliac and acetabular angles may be present in young infants. Short hands with shortened digits and clinodactyly due to hypoplastic middle phalanx of the fifth finger may be present.

Echocardiography should be performed on all infants suspected of having trisomy 21 to identify congenital heart disease, regardless of findings on physical examination.


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