## 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
Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
✍ Scribed by Šípek, Antonín; Grodecká, Lucie; Baxová, Alice; Cibulková, Petra; Dvořáková, Magdaléna; Mazurová, Stella; Magner, Martin; Zeman, Jiří; Honzík, Tomáš; Freiberger, Tomáš
- Book ID
- 121648115
- Publisher
- John Wiley and Sons
- Year
- 2014
- Tongue
- English
- Weight
- 123 KB
- Volume
- 164
- Category
- Article
- ISSN
- 1552-4825
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## Abstract We report on a 25‐year‐old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe
Marfan Syndrome (MfS) is an autosomal dominant inherited connective tissue disorder with variable phenotypic expression of cardiovascular, skeletal and ocular manifestations. Cardiovascular complications, such as aortic aneurysm and dissection drastically reduce life expectancy of individuals with M