Presentation
Term gestation, newborn with respiratory distress. Known antenatal diagnosis of trisomy 21.
Patient Data
A hypoplastic-appearing thorax with reduced lung volume. There is a normal cardiomediastinal contour with a central trachea. There is an appropriate gaseous distension of the proximal bowel in a newborn (X-rays are within 2 hours of birth).
There are overlying ECG leads, and an overlying temperature lead.
The humeral ossification centers are absent. There are 12 pairs of ribs.
Case Discussion
There is a history of antenatal confirmation of trisomy 21. The thoracic skeletal appearance suggests secondary pulmonary hypoplasia (type 3), a known association with Down syndrome.
A formal cardiac assessment and echocardiogram confirmed a significant PDA, small ASD, and developing pulmonary arterial hypertension compounding the respiratory insufficiency.
There are no other apparent skeletal features of Down syndrome on the portable series.
Follow-up abdominal X-rays were normal with no apparent suspicion of a gastrointestinal tract abnormality.
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