Back to Search
Start Over
Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis.
- Source :
-
Journal of child neurology [J Child Neurol] 2013 Jan; Vol. 28 (1), pp. 115-9. Date of Electronic Publication: 2012 Mar 25. - Publication Year :
- 2013
-
Abstract
- Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosis of macrosomia and tetralogy of Fallot. He also had macrocephaly; a high forehead; capillary hemangioma on the forehead, upper lip, and philtrum; generalized loose skin; postaxial polydactyly of both hands and feet, with neuroimaging findings of polymicrogyria and thrombosis in sagittal sinus and sinus rectus. His condition was diagnosed as macrocephaly-capillary malformation syndrome in the neonatal period and he died suddenly during sleep at 6 months of age. The clinical course in this syndrome is not as benign as was previously thought. Careful follow-up of these patients with particular emphasis on neuroradiologic and cardiologic evaluation might help decrease the risk of sudden death and to improve long-term outcome.
Details
- Language :
- English
- ISSN :
- 1708-8283
- Volume :
- 28
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of child neurology
- Publication Type :
- Academic Journal
- Accession number :
- 22451530
- Full Text :
- https://doi.org/10.1177/0883073812439346