𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Severe infantile Marfan syndrome versus neonatal Marfan syndrome

✍ Scribed by Raoul C.M. Hennekam

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
29 KB
Volume
139A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Asymmetric Marfan syndrome
Asymmetric Marfan syndrome
✍ Burgio, Roberto G. ;Martini, Alberto ;Cetta, Giuseppe ;Zanaboni, Giuseppe ;Vitel πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 310 KB
Hiatus/paraesophageal hernias in neonata
Hiatus/paraesophageal hernias in neonatal Marfan syndrome
✍ Parida, Saroj K.; Kriss, Vesna Martich; Hall, Bryan D. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 13 KB πŸ‘ 2 views

We report on an infant with neonatal Marfan syndrome (NMS) and hiatus/ paraesophageal hernia who presented to a university hospital with an unusual early complication of this connective tissue disorder. An abnormal course of the nasogastric tube was noted on the first day of life by a radiograph of

Primary trabeculodysgenesis in associati
Primary trabeculodysgenesis in association with neonatal Marfan syndrome
✍ Charlotte M. Whitelaw; Samira Anwar; Lesley C. AdΓ¨s; Glen A. Gole; James E. Elde πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 167 KB πŸ‘ 1 views

## Abstract We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not bee

Severe Marfan syndrome due to FBN1 exon
Severe Marfan syndrome due to FBN1 exon deletions
✍ Moira Blyth; Nicola Foulds; Claire Turner; David Bunyan πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 110 KB

## Abstract Marfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin‐1 gene (__FBN1__). The majority of these are family‐specific point mutations, with a small number being pr

Metacarpophalangeal pattern profile in M
Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients
✍ de Oliveira Sobrinho, Ruy Pires; Moretti-Ferreira, Danilo; Contini, AndrΓ©ia; Nor πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 27 KB πŸ‘ 2 views

## Marfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and its diagnosis relies completely on clinical criteria. Atypical cases and Marfan-like (marfanoid) clinical presentations are commonly found. The metacarpophal