title: Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis.
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.
authors.affiliation: Department of Neonatology, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.
authors.forename: Tugba Erener
authors.initials: TE
authors.lastname: Ercan
authors.forename: Funda
authors.initials: F
authors.lastname: Oztunc
authors.forename: Tiraje
authors.initials: T
authors.lastname: Celkan
authors.forename: Meltem
authors.initials: M
authors.lastname: Bor
authors.forename: Osman
authors.initials: O
authors.lastname: Kizilkilic
authors.forename: Mehmet
authors.initials: M
authors.lastname: Vural
authors.forename: Yildiz
authors.initials: Y
authors.lastname: Perk
authors.forename: Civan
authors.initials: C
authors.lastname: Islak
authors.forename: Beyhan
authors.initials: B
authors.lastname: Tuysuz
mesh_terms: D001921:Brain / Q000473:pathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D058627:Megalencephaly / Q000150:complications / Q000209:etiology*; D020225:Sagittal Sinus Thrombosis / Q000150:complications*; D012868:Skin Abnormalities / Q000150:complications / Q000209:etiology*; D013771:Tetralogy of Fallot / Q000150:complications*