A rare face of “PHACE” syndrome with Dandy-Walker malformation, microphthalmia with leukocoria, hearing loss and involuting segmental facial hemangioma

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Association of hearing loss with PHACE syndrome.

BACKGROUND PHACE syndrome describes a spectrum of anomalies associated with large facial infantile hemangiomas and characterized by posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. With improved recognition and imaging practices of infants with PHACE syndrome, additional associations have been identified. To our...

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PHACE syndrome in a child with segmental IH of face.

Guimarães CV, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-221793 Description An 8-month-old female infant was referred for paediatric and dermatology consultation for evaluation of a facial haemangioma with progressive growth since the first days of life. The observation showed a large segmental infantile haemangioma (IH) over the right face (figure 1), a small vulvar haemangioma and exotrop...

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Dandy-Walker Malformation Presenting with Psychological Manifestations

Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is kn...

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Dandy-Walker Malformation

Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be present, but the syndrome exists whenever these three features are found. A...

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Large destructive facial hemangioma in PHACE syndrome

We report an infant who presented with large facial hemangioma associated with Dandy-Walker cyst and atrial septal defect. This case is peculiar in that the large facial hemangioma in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of aorta and other cardiac defects (PHACE) syndrome resulted in massive tissue destruction.

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ژورنال

عنوان ژورنال: Indian Journal of Paediatric Dermatology

سال: 2017

ISSN: 2319-7250

DOI: 10.4103/2319-7250.206056