Literature DB >> 31191138

PHACES syndrome with ectopia cordis and hemihypertrophy.

Jad Chokr1, Bedros Taslakian2, Gilbert Maroun3, Gagandeep Choudhary4.   

Abstract

PHACES is the acronym describing the phenotypic association of posterior fossa anomalies, facial hemangioma, cardiac and eye anomalies, and sternal defects. To date, more than 300 cases of PHACE(S) have been reported. We present the case of a newborn girl who was born with a variant of the PHACES syndrome. Although the sternal cleft and the small facial hemangioma were evident clinically at birth, magnetic resonance imaging of the brain provided additional information to establish the diagnosis. In addition, the patient manifested later with hemihypertrophy, an association that has not been described previously.

Entities:  

Keywords:  Ectopia cordis; PHACES syndrome; hemihypertrophy; posterior fossa anomalies

Year:  2019        PMID: 31191138      PMCID: PMC6541088          DOI: 10.1080/08998280.2018.1548263

Source DB:  PubMed          Journal:  Proc (Bayl Univ Med Cent)        ISSN: 0899-8280


  14 in total

1.  Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia.

Authors:  Carol L Clericuzio; Emily Chen; Dawn Elizabeth McNeil; Timothy O'Connor; Elaine H Zackai; Livija Medne; Gail Tomlinson; Michael DeBaun
Journal:  J Pediatr       Date:  2003-08       Impact factor: 4.406

Review 2.  Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy.

Authors:  Scott A Engum
Journal:  Semin Pediatr Surg       Date:  2008-08       Impact factor: 2.754

3.  PHACE syndrome: current knowledge, future directions.

Authors:  Denise W Metry; Maria C Garzon; Beth A Drolet; Peter Frommelt; Anita Haggstrom; Judith Hall; Christopher P Hess; Geoffrey L Heyer; Dawn Siegel; Eulalia Baselga; William Katowitz; Moise L Levy; Anthony Mancini; Mandi L Maronn; Thuy Phung; Elena Pope; Grace Sun; Ilona J Frieden
Journal:  Pediatr Dermatol       Date:  2009 Jul-Aug       Impact factor: 1.588

Review 4.  Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature.

Authors:  Dawn H Siegel; Kimberly A Tefft; Teresa Kelly; Craig Johnson; Denise Metry; Patricia Burrows; Elena Pope; Maria Cordisco; Kristen E Holland; Mohit Maheshwari; Phillip Keith; Maria Garzon; Christopher Hess; Ilona J Frieden; Heather J Fullerton; Beth A Drolet
Journal:  Stroke       Date:  2012-03-22       Impact factor: 7.914

5.  Intracranial infantile hemangiomas associated with PHACE syndrome.

Authors:  C D Judd; P R Chapman; B Koch; C J Shea
Journal:  AJNR Am J Neuroradiol       Date:  2007-01       Impact factor: 3.825

6.  PHACES syndrome and ectopia cordis.

Authors:  Juan Carlos Lopez-Gutierrez
Journal:  Interact Cardiovasc Thorac Surg       Date:  2011-01-19

Review 7.  Imaging appearances of the sternum and sternoclavicular joints.

Authors:  Carlos S Restrepo; Santiago Martinez; Diego F Lemos; Lacey Washington; H Page McAdams; Daniel Vargas; Julio A Lemos; Jorge A Carrillo; Lisa Diethelm
Journal:  Radiographics       Date:  2009 May-Jun       Impact factor: 5.333

8.  Ectopia cordis associated with Cantrell's pentalogy.

Authors:  Basant Kumar; Chetan Sharma; Devendra D Sinha
Journal:  Ann Thorac Med       Date:  2008-10       Impact factor: 2.219

9.  Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area.

Authors:  Marie Merheb; Roula Hourani; Mira S Zantout; Sami T Azar
Journal:  Endocr Pract       Date:  2010 Mar-Apr       Impact factor: 3.443

10.  Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia.

Authors:  Carol L Clericuzio; Rick A Martin
Journal:  Genet Med       Date:  2009-03       Impact factor: 8.822

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