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Risk of dysphagia and speech and language delay in PHACE syndrome. Pediatr Dermatol 2015 Jan-Feb;32(1):64-9 PMID: 25440893

Pubmed ID

25440893

DOI

10.1111/pde.12447

Abstract

PHACE (posterior fossa, hemangioma, arterial lesions, cardiac, and eye) syndrome consists of infantile hemangiomas of the head and neck along with a spectrum of noncutaneous anomalies. Neurodevelopmental abnormalities have also been noted. Here we describe the association between PHACE syndrome and abnormalities in oropharyngeal development and coordination manifesting as dysphagia or speech and language delay. A retrospective chart review was conducted of 34 patients with PHACE syndrome. Data were collected from prior clinical notes and radiographic studies and the results of a comprehensive questionnaire that those who attended the July 2012 PHACE Syndrome Family Conference completed. Seventeen of 34 patients with PHACE syndrome and signs or symptoms of dysphagia or speech or language problems were included for analysis. Nine had dysphagia, seven had a history of cardiac surgery, four had a posterior fossa malformation, and seven had lip or oropharynx hemangiomas. Speech or language delay was noted in 16; posterior fossa abnormalities and lip or oropharynx hemangiomas were the most commonly seen associated finding in this group. There was considerable overlap between subset populations with dysphagia, speech delay, and language delay. A subset of individuals with PHACE syndrome experience dysphagia, speech delay, or language delay. This risk seems to be greater in certain subsets of patients, including those with posterior fossa malformations or lip or oropharynx hemangiomas and those with a history of cardiac surgery. Although this descriptive study was not comprehensive enough to examine prevalence, the high incidence of dysphagia and speech and language delay seen in our cohort warrants future prospective studies to further investigate the association.

Author List

Martin KL, Arvedson JC, Bayer ML, Drolet BA, Chun R, Siegel DH

Authors

Robert H. Chun MD Associate Professor in the Otolaryngology department at Medical College of Wisconsin
Dawn Siegel MD Associate Professor in the Dermatology department at Medical College of Wisconsin




Scopus

2-s2.0-84921840382   6 Citations

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

Aortic Coarctation
Child
Child, Preschool
Cranial Fossa, Posterior
Deglutition Disorders
Eye Abnormalities
Female
Hemangioma
Humans
Infant
Intracranial Arteriovenous Malformations
Language Development Disorders
Lip Neoplasms
Male
Neurocutaneous Syndromes
Oropharyngeal Neoplasms
Prevalence
Retrospective Studies
Risk Factors
Syndrome
Thoracic Surgery
jenkins-FCD Prod-332 f92a19b0ec5e8e1eff783fac390ec127e367c2b5