Literature DB >> 15492745

PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect.

Janice B Lasky1, Mariana Sandu, Aarthi Balashanmugan.   

Abstract

PHACE Syndrome is a neurocutaneous disease spectrum encompassing the following features: Posterior fossa brain malformations, large facial Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities. We report the ocular and systemic findings, as well as the management course, of an infant who has all the characteristic features of PHACE syndrome and also describe what we believe to be the first reported case of this syndrome with Persistent Fetal Vasculature (PFV).

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Year:  2004        PMID: 15492745     DOI: 10.1016/j.jaapos.2004.06.014

Source DB:  PubMed          Journal:  J AAPOS        ISSN: 1091-8531            Impact factor:   1.220


  4 in total

1.  Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

Authors:  Jack E Steiner; Garrett N McCoy; Christopher P Hess; William B Dobyns; Denise W Metry; Beth A Drolet; Mohit Maheshwari; Dawn H Siegel
Journal:  Am J Med Genet A       Date:  2017-11-24       Impact factor: 2.802

2.  PHACE Syndrome: Persistent Fetal Vascular Anomalies. A Case Report.

Authors:  V Prochazka; T Hrbac; J Chmelova; D Skoloudik; M Prochazka
Journal:  Interv Neuroradiol       Date:  2006-02-10       Impact factor: 1.610

3.  PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature.

Authors:  Lipika Nayak; Bhagabat Nayak; Gautam Sinha; Sudarshan Khokhar
Journal:  BMJ Case Rep       Date:  2016-03-31

4.  PHACE(S) syndrome: Report of a case with new ocular and systemic manifestations.

Authors:  Raheleh Assari; Vahid Ziaee; Sasan Moghimi; Mohammad Reza Akbari; Arash Mirmohammadsadeghi
Journal:  J Curr Ophthalmol       Date:  2016-12-27
  4 in total

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