Fetal intracerebral hemorrhage and cataract: think COL4A1.
J Perinatol
; 34(1): 75-7, 2014 Jan.
Article
en En
| MEDLINE
| ID: mdl-24374867
ABSTRACT
The COL4A1 gene encodes the alpha1 chain of type IV collagen, a crucial component of nearly all basement membranes. Mutations in COL4A1 were first associated with cerebral microangiopathy and familial porencephaly. Recently, several authors have reported mutations in COL4A1 as a Mendelian cause of prenatal onset intracranial hemorrhage (ICH). We report two cases of prenatal ICH associated with cataract and suggest that COL4A1 mutation should be envisaged in fetuses with prenatal ICH, especially in the presence of lens abnormalities at ultrasound examination.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Catarata
/
Hemorragia Cerebral
/
Colágeno Tipo IV
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
J Perinatol
Asunto de la revista:
PERINATOLOGIA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Francia