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Neurodevelopmental abnormalities in children with PHACE syndrome. J Child Neurol 2013 May;28(5):608-14 PMID: 22805249

Pubmed ID





Prior case reports have identified neurodevelopmental abnormalities in children with PHACE syndrome, a neurocutaneous disorder first characterized in 1996. In this multicenter, retrospective study of a previously identified cohort of 93 children diagnosed with PHACE syndrome from 1999 to 2010, 29 children had neurologic evaluations at ≥ 1 year of age (median age: 4 years, 2 months). In all, 44% had language delay, 36% gross motor delay, and 8% fine motor delay; 52% had an abnormal neurological exam, with speech abnormalities as the most common finding. Overall, 20 of 29 (69%) had neurodevelopmental abnormalities. Cerebral, but not posterior fossa, structural abnormalities were identified more often in children with abnormal versus normal neurodevelopmental outcomes (35% vs. 0%, P = .04). Neurodevelopmental abnormalities in young children with PHACE syndrome referred to neurologists include language and gross motor delay, while fine motor delay is less frequent. Prospective studies are needed to understand long-term neurodevelopmental outcomes.

Author List

Tangtiphaiboontana J, Hess CP, Bayer M, Drolet BA, Nassif LM, Metry DW, Barkovich AJ, Frieden IJ, Fullerton HJ


2-s2.0-84886871588   20 Citations

MESH terms used to index this publication - Major topics in bold

Aortic Coarctation
Child, Preschool
Cohort Studies
Developmental Disabilities
Eye Abnormalities
Language Development Disorders
Motor Skills Disorders
Neurocutaneous Syndromes
Neurologic Examination
Retrospective Studies
Speech Disorders
jenkins-FCD Prod-321 98992d628744e349846c2f62ac68f241d7e1ea70