Homozygous factor-V mutation as a genetic cause of perinatal thrombosis and cerebral palsy

A 5-year old girl with cerebral palsy (CP), preterm birth, postnatal aortic thrombus, and cerebellar venous infarction who is homozygous for the thrombophilic factor-V Leiden (fVL) mutation is reported. The role of hereditary thrombophilic disorders in the development of perinatal vascular lesions s...

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Veröffentlicht in:	Developmental medicine and child neurology 1999-11, Vol.41 (11), p.777-780, Article S0012162299001541
Hauptverfasser:	Harum, Karen H, Hoon, Alexander H, Kato, Gregory J, Casella, James F, Breiter, Steven N, Johnston, Michael V
Format:	Artikel
Sprache:	eng
Schlagworte:	Aortic Diseases - diagnostic imaging Aortic Diseases - genetics Case Reports Cerebral Palsy - diagnosis Cerebral Palsy - genetics Child, Preschool Coronary Thrombosis - diagnostic imaging Coronary Thrombosis - genetics Factor V - genetics Female Homozygote Humans Infant, Newborn Leukomalacia, Periventricular - pathology Magnetic Resonance Imaging Point Mutation - genetics Polymerase Chain Reaction - methods Ultrasonography
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