Key result
Delayed diagnosis of Loeys-Dietz syndrome in 5 neonates presenting with musculoskeletal abnormalities led to progressive aortic enlargement requiring surgery in 3 patients and causing 1 death.
Case Report (n=5)
Early clinical recognition of Loeys-Dietz syndrome in neonates presenting with musculoskeletal abnormalities is critical, as delayed diagnosis may lead to severe aortic enlargement and adverse outcomes.
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May warrant earlier genetic evaluation in neonates with musculoskeletal abnormalities; case series leaves optimal screening protocols open.
Yetman et al. (2007) conducted a case report in Loeys-Dietz syndrome (n=5). Delayed diagnosis of Loeys-Dietz syndrome in 5 neonates presenting with musculoskeletal abnormalities led to progressive aortic enlargement requiring surgery in 3 patients and causing 1 death.
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