PHACES syndrome and ectopia cordis.
PHACES syndrome is a spectrum of anomalies, P, posterior fossa anomalies as Dandy-Walker malformation; H, hemangioma; A, arterial lesions of the head and neck (the most commonly detected include dysplasia, aberrant origin or course, hypoplasia, and absence or agenesis); C, cardiac abnormalities as aortic coarctation; E, abnormalities of the eye and S, sternal defect, that may be present in up to 2% of children with facial hemangiomas and 20% of children with segmental facial hemangiomas. The constellation of PHACES syndrome symptoms may vary significantly between different patients. Major and minor criteria for PHACES syndrome have been recently described in order to improve their classification and management. We report the case of a newborn with PHACES syndrome, who had additional congenital defects including ectopia cordis as the most severe form of midline defect. Although the list and variety of published cardiac malformations in PHACES syndrome are extensive, ectopia cordis has not been previously reported.
Department of Surgery, La Paz Children's Hospital, Autonoma University of Madrid, Madrid, Spain. queminfantil.hulp@salud.madrid.org
Juan Carlos
JC
Lopez-Gutierrez
D000015:Abnormalities, Multiple; D001017:Aortic Coarctation / Q000175:diagnosis; D006348:Cardiac Surgical Procedures; D054083:Ectopia Cordis / Q000175:diagnosis* / Q000601:surgery; D005124:Eye Abnormalities / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D020752:Neurocutaneous Syndromes / Q000175:diagnosis; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome