| Literature DB >> 31191138 |
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