PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report.
PHACE syndrome is characterized by posterior fossa malformations (P), large facial hemangiomas (H), arterial anomalies (A), cardiac anomalies or coarctation of aorta (C), and eye anomalies (E) and has striking female predominance. Endocrine abnormalities have recently been described in these patients, involving the thyroid and pituitary glands. We report the case of a 2-year-old girl with the clinical features of PHACE with absence of bilateral internal carotid arteries and isolated growth hormone deficiency.
Department of Pediatric Cardiology, Meram Medical Faculty, Selcuk University, Konya, Turkey. dr.hakanaltin@hotmail.com
Hakan
H
Altin
Hayrullah
H
Alp
Fatih
F
Sap
Zehra
Z
Karataş
Tamer
T
Baysal
Sevim
S
Karaaslan
D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D001017:Aortic Coarctation / Q000175:diagnosis*; D002343:Carotid Artery, Internal / Q000002:abnormalities*; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006391:Hemangioma / Q000188:drug therapy; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D011433:Propranolol / Q000627:therapeutic use; D013577:Syndrome; D016896:Treatment Outcome
D000319:Adrenergic beta-Antagonists; D019382:Human Growth Hormone; D011433:Propranolol