Incidental radiographic findings may help identify rare disorders such as Alagille syndrome in neonatal patients before they are symptomatic, according to a new review article published in Pediatric Radiology.

The study’s author highlighted the need for physicians to inspect any radiographic images of neonates for any musculoskeletal anomalies, especially in the abdomen and pelvis.

Neonatal patients may initially have radiographs ordered for more common indications such as central venous line placement, respiratory distress, or abdominal distension, but they represent an opportunity to find other evidence of disorders before symptoms occur.

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Careful evaluation of the spine can identify vertebral abnormalities such as butterfly vertebral bodies that could indicate Alagille syndrome. An absent 12th rib and pelvic anomalies may also indicate Alagille syndrome.

Radiographic imaging of the periphery may reveal less common musculoskeletal findings of Alagille syndrome such as phalangeal shortening and shortened ulnas.

“Careful inspection of the bones on neonatal abdominopelvic radiographs performed for any indication can help the team come to a unifying diagnosis. Finding unexpected skeletal anomalies on the image can lead to earlier diagnosis and intervention, even before an infant is symptomatic,” the author said.

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Close evaluation of the spine may also reveal incidental findings that could indicate a number of other rare disorders including VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities), Currarino triad, or caudal regression.

“Description of the number of thoracic- and lumbar-type vertebrae, identification of vertebral or sacral anomalies, and evaluation for fractures should be part of every initial newborn radiography report,” the author wrote.

Radiographic imaging that includes the periphery should also be inspected for abnormalities. Apert syndrome, pseudoarthrosis of the clavicle, constriction band syndrome, and proximal focal femoral deficiency can be detected using radiographic evaluation.

“As time goes on during an infant’s stay in the neonatal intensive care unit (NICU), clinicians must stay on alert for unsuspected congenital musculoskeletal abnormalities, especially if limbs are included in the field of view,” the author said.


Gill KG. Congenital musculoskeletal anomalies – key radiographic findings. Pediatr Radiol. Published online November 3, 2021. doi:10.1007/s00247-021-05200-x