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PHACES syndrome: a review of eight previously unreported cases with late arterial occlusions

  • Paediatric Neuroradiology
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Abstract

PHACE and PHACES are acronyms for a syndrome of variable expression comprising posterior cranial fossa malformations, facial haemangiomas, arterial anomalies, aortic coarctation and other cardiac disorders, ocular abnormalities and stenotic arterial disease. We review five girls and three boys aged 1 month–14 years with disorders from this spectrum. Six had large facial haemangiomas but recent reports suggest that small haemangiomas may occur; hence our inclusion of two possible cases. We also focus on the recently recognised feature of progressive intracranial arterial occlusions, present in four of our patients, later than previously recognised, from 4 to 14 years of age. We suggest that many elements of this disorder could reflect an abnormality of cell proliferation and apoptosis.

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Authors and Affiliations

  1. Department of Neuroradiology, Institute of Neurological Sciences, Southern General Hospital, 1345 Gowan Road, Glasgow, G51, UK

    J. J. Bhattacharya

  2. Neuroradiologie Diagnostique et Therapeutique, Hôpital de Bicêtre, Rue du Général Leclerc 78, 94275, Le Kremlin-Bicêtre, France

    C. B. Luo, H. Álvarez, G. Rodesch & P. L. Lasjaunias

  3. Ramathibodi Hospital, Bangkok, Thailand

    S. Pongpech

Authors
  1. J. J. Bhattacharya
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  2. C. B. Luo
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  3. H. Álvarez
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  4. G. Rodesch
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  5. S. Pongpech
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  6. P. L. Lasjaunias
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Corresponding author

Correspondence to P. L. Lasjaunias.

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Bhattacharya, J.J., Luo, C.B., Álvarez, H. et al. PHACES syndrome: a review of eight previously unreported cases with late arterial occlusions. Neuroradiology 46, 227–233 (2004). https://doi.org/10.1007/s00234-002-0902-z

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  • DOI: https://doi.org/10.1007/s00234-002-0902-z

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