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- W2755165994 abstract "PHACE syndrome (OMIM 606519) is a neurocutaneous disorder presenting with facial hemangioma associated with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular malformations. Unilateral cerebellar hypoplasia, ipsilateral to the hemangioma, and cerebrovascular lesions are the most common brain imaging findings. We report the case of a female fetus with left unilateral cerebellar hypoplasia (UCH) associated with an ipsilateral posterior fossa cyst communicating with the fourth ventricle diagnosed at 15 gestational weeks (GW). On the 25th GW neurosonography these findings were observed in association with ipsilateral vascular malformations: a persistent trigeminal artery and an absent posterior inferior cerebellar artery, both detected by high definition Doppler scan. Fetal brain MRI performed at 32 GW revealed left UCH with abnormal cerebellar folia; small deviated vermis with an undetectable primary fissure, and a wide 4th ventricle with flat fastigium. Based on 2 major criteria (UCH and cerebrovascular malformations), the diagnosis of PHACE syndrome was proposed. The diagnosis was confirmed after birth by a large left segmental facial hemangioma. To our knowledge, this is the first time that PHACE syndrome is described prenatally with both cerebellar and vascular findings on fetal neurosonography." @default.
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- W2755165994 date "2017-09-01" @default.
- W2755165994 modified "2023-10-03" @default.
- W2755165994 title "P24.07: Posterior fossa imaging features enabling diagnosis of PHACE syndrome in utero" @default.
- W2755165994 doi "https://doi.org/10.1002/uog.18244" @default.
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