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
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

237-239

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Auteurs

Jad Chokr (J)

Department of Radiology, Clemenceau Medical Center, Johns Hopkins InternationalBeirutLebanon.

Bedros Taslakian (B)

Department of Radiology, New York University School of MedicineNew YorkNew York.

Gilbert Maroun (G)

Department of Radiology, American University of Beirut Medical CenterBeirutLebanon.

Gagandeep Choudhary (G)

Department of Radiology, University of Alabama at BirminghamBirminghamAlabama.

Classifications MeSH