American journal of perinatology · 2019
Neonatal Marfan Syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Tognato Eleonora, Perona Anna, Aronica Angela, Bertola Antonella, Cimminelli Lina, De Vecchi Simona, Eshraghy Mohammad Reza, Loperfido Bruna, Vivenza Claudia, Manzoni Paolo
Аннотация
OBJECTIVE: The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1) with skeletal, cardiac, and ocular involvement.
STUDY DESIGN: We report on a full-term male neonate, who showed at birth characteristics and dysmorphisms suggestive of nMFS, combined with the detection of severe cardiovascular disease. A multidisciplinary team made up of neonatologists and pediatricians, cardiologists, geneticists, ophtalmologists, physiatrists and physioterapists was formed to manage this patient.
RESULTS AND CONCLUSION: Early diagnosis of this rare condition is critical for adequate treatment and specific follow-up, and impacts significantly on prognosis.
STUDY DESIGN: We report on a full-term male neonate, who showed at birth characteristics and dysmorphisms suggestive of nMFS, combined with the detection of severe cardiovascular disease. A multidisciplinary team made up of neonatologists and pediatricians, cardiologists, geneticists, ophtalmologists, physiatrists and physioterapists was formed to manage this patient.
RESULTS AND CONCLUSION: Early diagnosis of this rare condition is critical for adequate treatment and specific follow-up, and impacts significantly on prognosis.