PHACES syndrome with ectopia cordis and hemihypertrophy.
Ectopia cordis
PHACES syndrome
hemihypertrophy
posterior fossa anomalies
Journal
Proceedings (Baylor University. Medical Center)
ISSN: 0899-8280
Titre abrégé: Proc (Bayl Univ Med Cent)
Pays: United States
ID NLM: 9302033
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
05
09
2018
revised:
04
11
2018
accepted:
05
11
2018
entrez:
14
6
2019
pubmed:
14
6
2019
medline:
14
6
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31191138
doi: 10.1080/08998280.2018.1548263
pii: 1548263
pmc: PMC6541088
doi:
Types de publication
Case Reports
Langues
eng
Pagination
237-239Références
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