Marfan syndrome and heritable connective-tissue disorders — branching viva

Outpatient clinic: a 14-year-old boy with tall stature, a pectus carinatum, a positive wrist-and-thumb sign, superotemporal lens subluxation on slit-lamp examination, and an echocardiogram showing aortic-root dilation at the sinuses of Valsalva, with no relevant family history. The examiner asks for the unifying diagnosis, the confirmation strategy, and the lifelong plan — then branches to the same boy at 17 wanting to conceive, to a different child with a bifid uvula and arterial tortuosity, and finally to a marfanoid toddler whose lens has fallen downward.