PHACES syndrome with small, late-onset hemangiomas.
Although hemangiomas are the hallmark of the PHACES syndrome, they may be nonexistent at birth and may not develop until later in early infancy. We report an infant who presented initially with cardiac defect, sternal nonunion, supraumbilical raphé, and congenital hypothyroidism without any hemangioma, and who subsequently developed facial hemangiomas at 2 months of age. We noted that there is a possibility that hemangiomas may subsequently develop later in early infancy and congenital hypothyroidism may be associated with the PHACES syndrome.
Torer
Birgin
B
Department of Pediatrics, Faculty of Medicine, Baskent University, Ankara, Turkey. btorer@baskent-adn.edu.tr
Gulcan
Hande
H
Kilicdag
Hasan
H
Derbent
Murat
M
D000015:Abnormalities, Multiple / Q000175:diagnosis; D017668:Age of Onset; D003409:Congenital Hypothyroidism / Q000175:diagnosis; D003937:Diagnosis, Differential; D005153:Facial Neoplasms / Q000209:etiology*; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006391:Hemangioma / Q000209:etiology*; D006801:Humans; D007223:Infant; D013249:Sternum / Q000002:abnormalities; D013577:Syndrome