- Design
- Retrospective single-centre cohort
- Population
- 129 children tested for suspected Marfan syndrome
- Primary outcome
- Predictors of a confirmed FBN1 variant
- Effect
- Family history OR 8.0 (1.7 to 37.0); aortic root z ≥2 OR 2.1 (1.3 to 3.4)
A retrospective study in Archives of Disease in Childhood (September 2026) compared 129 children tested for suspected Marfan syndrome: 64 with a pathogenic or likely pathogenic FBN1 variant and 65 with normal genetic testing.
Children with a confirmed variant were younger at testing (7.6 vs 11.2 years) and far more often met the revised Ghent criteria on clinical features (60.9% vs 1.5%). Six features predicted a confirmed diagnosis: a family history of aortic aneurysm or dissection (OR 8.0), aortic root z-score of 2 or more (OR 2.1), ectopia lentis (41% vs 0%), tall stature, increased arm span and hindfoot deformity.
This is a small single-centre study of already-referred children, and several odds ratios have very wide intervals. But the features are simple to check in a general clinic.
- Ask about aortic aneurysm, dissection or sudden death in the family of a tall child
- Measure arm span against height and look for hindfoot deformity
- Refer for an eye examination to look for lens dislocation
- Request an echocardiogram and aortic root z-score when Marfan is suspected
- Refer for genetic testing when these features cluster
Why it matters
Early diagnosis allows aortic surveillance and treatment before a first dissection.
Don't overread it
A small, referred, single-centre sample; the very wide intervals mean individual odds ratios are imprecise.
The statistics, in plain English
An odds ratio of 145.7 for hindfoot deformity with a confidence interval from 7.7 to 2,766.6 means the feature is strongly associated but the size of the association is very uncertain — a consequence of small numbers.
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