A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations.
PHACES is an acronym for a rare neurocutaneous disorder including the following features: posterior fossa brain malformations; facial hemangiomas; arterial, cardiac, and eye anomalies; and sternal clefts and/or supraumbilical abdominal raphe. Facial hemangiomas are the hallmark of this syndrome. We report a patient with facial hemangiomas, sternal clefting and carotid abnormalities. She is another example of the combined existence of sternal clefting and carotid abnormalities in PHACES syndrome and even more unique since she does not have an aortic abnormality. This report emphasizes that many different combinations of features may be seen in PHACES syndrome.
Vermeer
Sascha
S
Departments of Human Genetics Pediatrics and Radiology, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
van Oostrom
Cor G
CG
Boetes
Carla
C
Verrips
Aad
A
Knoers
Nine V A M
NVAM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001017:Aortic Coarctation / Q000473:pathology; D002675:Child, Preschool; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D005124:Eye Abnormalities; D005153:Facial Neoplasms / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000473:pathology; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000473:pathology*; D013249:Sternum / Q000002:abnormalities; D013577:Syndrome