title: A case of congenital hypothyroidism in PHACE syndrome.
abstract: Although hemangiomas, benign tumors of vascular origin, are very common among children and represent the most frequent benign tumor at that age, their association with other malformations constitutes a rare neurocutaneous disorder called PHACE syndrome. This condition is characterized by posterior fossa anomalies, hemangioma of the face, arterial alterations, cardiac defects, and eye anomalies (as represented by the acronym PHACE); sternum defects, endocrinopathies, and thyreopathies may be present as well. In this report, we describe a case of congenital hypothyroidism due to an empty thyroid site, as demonstrated by ultrasound, in an Italian child.
authors.affiliation: Department of Pediatrics, University of Cheti, Chieti, Italy. carinci.silvia@gmail.com
authors.forename: Silvia
authors.initials: S
authors.lastname: Carinci
authors.forename: Stefano
authors.initials: S
authors.lastname: Tumini
authors.forename: Nicola Pietro
authors.initials: NP
authors.lastname: Consilvio
authors.forename: Paola
authors.initials: P
authors.lastname: Cipriano
authors.forename: Alessia
authors.initials: A
authors.lastname: Di Stefano
authors.forename: Nadia
authors.initials: N
authors.lastname: Vercellino
authors.forename: Pietro
authors.initials: P
authors.lastname: Dalmonte
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
mesh_terms: D001017:Aortic Coarctation / Q000150:complications*; D003409:Congenital Hypothyroidism / Q000150:complications* / Q000000981:diagnostic imaging*; D005124:Eye Abnormalities / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D020752:Neurocutaneous Syndromes / Q000150:complications*; D050033:Thyroid Dysgenesis / Q000150:complications* / Q000000981:diagnostic imaging*; D014463:Ultrasonography