Abstract
We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic enlargement, which necessitated surgical intervention for 3 patients and resulted in the death of 1 patient. Delay in diagnosis of Loeys-Dietz syndrome may be associated with adverse prognosis.
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / surgery
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Aortic Aneurysm, Thoracic / diagnosis*
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Aortic Aneurysm, Thoracic / genetics*
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Aortic Aneurysm, Thoracic / surgery
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Diagnosis, Differential
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Female
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Humans
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Infant
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Infant, Newborn
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Male
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Mutation
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Protein Serine-Threonine Kinases
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Receptor, Transforming Growth Factor-beta Type II
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Receptors, Transforming Growth Factor beta / genetics*
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Syndrome
Substances
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Receptors, Transforming Growth Factor beta
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Protein Serine-Threonine Kinases
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Receptor, Transforming Growth Factor-beta Type II