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Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation

✍ Scribed by Terhi Rantamäki; Ilkka Kaitila; Ann-Christine Syvänen; Matti Lukka; Leena Peltonen

Book ID
117852762
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
199 KB
Volume
64
Category
Article
ISSN
0002-9297

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Familial neonatal Marfan syndrome due to
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## Abstract We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficien