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Article

Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst.

Pediatric dermatology - 1 Jan 2000

Shabbir Arsalan Q, Nazareth Michael R, Rothman Ilene L

Abstract excerpt

Branchial cleft anomalies are rare developmental defects of the neck, with an estimated 2% to 3% being bilateral. Although most are isolated findings, some are associated with syndromes. We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. Magnetic...

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Identifiers

PMID: 22276601
DOI: 10.1111/j.1525-1470.2011.01667.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.Semantic proximity Read ↗

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