Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis.
Klin Padiatr
; 222(4): 261-3, 2010 Jul.
Article
in En
| MEDLINE
| ID: mdl-20455198
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Exons
/
Chromosome Deletion
/
Heart Failure
/
Marfan Syndrome
/
Microfilament Proteins
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Newborn
/
Pregnancy
Language:
En
Journal:
Klin Padiatr
Year:
2010
Document type:
Article