Neonatal Marfan Syndrome: Unusually Large Deletion of Exons 24-26 of FBN1 Associated With Poor Prognosis

作者：Apitz C^*; Mackensen Haen S; Girisch M; Kerst G; Wiegand G; Stuhrmann M; Niethammer K; Behrwind G; Hofbeck M

来源：Klinische Padiatrie, 2010, 222(4): 261-263.

DOI：10.1055/s-0030-1247510

• neonatal Marfan syndrome
• pediatrics
• FBN1 gene
• molecular genetics
• deletion

Neonatal Marfan syndrome is a very rare subset of the classical Marfan syndrome with pronounced phenotypic expression especially of the cardiovascular manifestations. It is associated with a very poor prognosis, with approximately 50% of affected infants dying from cardiac failure during the first year of life. We present a newborn with the classical phenotype of neonatal Marfan syndrome. Within few hours after birth, progressive and refractory heart failure developed. Postmortal molecular study revealed an unusually large deletion of exons 24-26 within the so-called neonatal region of the gene FBN1, which might explain the unfavourable course of the disease in our patient.

• 出版日期2010-8