P03.01: Prenatal imaging findings in PHACES syndrome

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PHACES syndrome with congenital hypothyroidism.

The acronym PHACE syndrome stands for Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities, Sternal clefting and/or a supraumbilical raphe. We report a 20 day old neonate who presented with a large facial hemangioma and Dandy-Walker cyst. This case is unusual because the cyst was detected antenatally and there was ...

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PHACES syndrome--case report and literature review.

The case of a 2-month-old female infant with PHACES syndrome is reported. PHACES represents a broad spectrum of congenital anomalies, including the following primary features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, cardiac defects and aortic coarctation, eye abnormalities, and ventral developmental defects. The literature on this rare condition is rev...

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Prenatal ultrasound and magnetic resonance imaging in fetal varicella syndrome: correlation with pathology findings.

OBJECTIVES To assess the diagnostic value of prenatal magnetic resonance imaging (MRI) in addition to prenatal ultrasound in a case of fetal varicella syndrome. METHODS Comparison of prenatal ultrasound and MRI features obtained at 26 and 32 weeks, respectively, with neonatal imaging (ultrasound, MRI and CT) and macroscopic and microscopic pathology findings in a fatal case of varicella embry...

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PHACES syndrome with cataract and Horner’s syndrome: a case report

PHACES syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Cardiac Defects and Coarctation of the Aorta, Eye Abnormalities, and Sternal Abnormalities or Ventral Developmental Defects) is a rare neurocutaneous syndrome, which characteristic feature is large segmental hemangioma. Extracutaneous involvement is an important cause of morbidity in this syndrome.<br /...

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The cerebral vasculopathy of PHACES syndrome.

BACKGROUND AND PURPOSE PHACES syndrome is a neurocutaneous disorder of unknown etiology. We studied the spectrum of associated congenital and progressive cerebral vascular anomalies. METHODS The medical records of 7 patients with PHACES syndrome were reviewed and combined with an additional 108 PHACES cases identified from the literature. We reviewed the clinical characteristics, calculated t...

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ژورنال

عنوان ژورنال: Ultrasound in Obstetrics & Gynecology

سال: 2011

ISSN: 0960-7692

DOI: 10.1002/uog.9637