Literature DB >> 12116276

Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association.

Paul A James1, Julie McGaughran.   

Abstract

PHACE syndrome is the term applied to the association of posterior fossa brain abnormalities, hemangiomas, arterial anomalies in the cranial vasculature, coarctation of the aorta/cardiac defects, and eye abnormalities. An overlap with the sternal malformation/vascular dysplasia association has been described. We report an adult patient with complete manifestations of both conditions. As an adult she has demonstrated resolution of the hemangiomas and only mild intellectual difficulties.

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Year:  2002        PMID: 12116276     DOI: 10.1002/ajmg.10398

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  A keyhole-shaped sternal defect in an ancient human skeleton.

Authors:  Paola Saccheri; Gastone Sabbadini; Francesco Toso; Luciana Travan
Journal:  Surg Radiol Anat       Date:  2012-03-23       Impact factor: 1.246

Review 2.  Phenotypic spectrum and management of sternal cleft: literature review and presentation of a new series.

Authors:  Michele Torre; Giovanni Rapuzzi; Marcello Carlucci; Luca Pio; Vincenzo Jasonni
Journal:  Eur J Cardiothorac Surg       Date:  2012-01       Impact factor: 4.191

3.  A girl with sternal malformation/vascular dysplasia association.

Authors:  Na Yong Lee; Hye Kyung Cho; Kyung-Hyo Kim; Eun Ae Park
Journal:  Korean J Pediatr       Date:  2013-03-18

4.  Hearing loss in PHACE syndrome: clinical and radiologic findings.

Authors:  Mark D Mamlouk; Bree Zimmerman; Erin F Mathes; Kristina W Rosbe
Journal:  Childs Nerv Syst       Date:  2018-05-10       Impact factor: 1.475

5.  MDCT evaluation of sternal variations: Pictorial essay.

Authors:  Chary Duraikannu; Olma V Noronha; Pushparajan Sundarrajan
Journal:  Indian J Radiol Imaging       Date:  2016 Apr-Jun
  5 in total

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