Assessment of a patient with possible Marfan syndrome

c The diagnosis should be based on the Ghent diagnostic nosology c The initial assessment should include a personal history, detailed family history, and clinical examination including ophthalmology examination and transthoracic echocardio-gram c The aortic diameter at the sinus of Valsalva (fig 32.3) should be related to normal values based on age and body surface area c The development of scoliosis and protrusio acetabulae is age dependent, commonly occurring following periods of rapid growth. Radiographic examination for these features is indicated, depending on age, if a positive finding would make the diagnosis of Marfan syndrome c A pelvic MRI scan to detect dural ectasia is indicated if a positive finding would make the diagnosis of Marfan syndrome c Younger patients with suspected Marfan syndrome, who do not fulfil the Ghent diagnostic criteria, should be offered repeat clinical evaluations pre-school, before puberty, and at age 18, if they fall into one of the groups below. Additional evaluations may be clinically indicated around puberty:

(1) Children or adolescents with a positive family history in whom DNA testing is not possible

(2) Children or adolescents with no family history, who fall short of fulfilling the diagnostic criteria by one system only.

other clinical features or by biochemical testing. Lujan-Fryns syndrome is an unusual X-linked mental handicap disorder with marfanoid features, while in the autosomal dominant Shprintzen-Goldberg syndrome, craniosynostosis is also evident. Some Shprintzen-Goldberg cases have fibrillin 1 mutations, so this might be regarded as an unusual variant of Marfan syndrome. Homocystinuria (autosomal recessive) is characterised by raised urinary homocysteine excretion, while in congenital contractural arachnodactyly or Beals syndrome (autosomal dominant, associated with mutation in fibrillin 2) joint contractures and ear anomalies are evident in addition to a marfanoid appearance. In other disorders, the distinction from Marfan syndrome is more difficult. The best known of these is the MASS syndrome, which may be considered a

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