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Dev Med Child Neurol. 1999 Nov;41(11):777-80.

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

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The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.


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 such as aortic thrombi, renal-vein thrombosis, venous-sinus thrombosis, and cerebral infarction is unknown. This case report brings into question a potential association between fVL, perinatal vascular lesions, perinatal stroke, and CP.

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