Lipodermoid in a patient with Emanuel syndrome

Tanya S. Glaser, Katherine A Rauen, Linda J B Jeng, Alejandra G. De Alba Campomanes

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

We report an 8-month-old boy with Emanuel syndrome who also had the clinical features of Goldenhar syndrome. At birth, he was observed to have bilateral microtia with multiple auricular pits, retrognathia, and a unilateral lipodermoid. Further testing revealed cardiac defects. The finding of a lipodermoid in Emanuel syndrome demonstrates phenotypic overlap between Goldenhar and Emanuel syndromes and suggests a role for genetic analysis in all patients with clinical features that include ear anomalies and lipodermoids. Correct identification of patients with Emanuel syndrome is important for determining whether there is risk of long-term neurodevelopmental disability, and genetic testing can determine parental carrier status to aid in family planning.

Original languageEnglish (US)
Pages (from-to)211-213
Number of pages3
JournalJournal of AAPOS
Volume17
Issue number2
DOIs
StatePublished - Apr 2013
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health

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    Glaser, T. S., Rauen, K. A., Jeng, L. J. B., & De Alba Campomanes, A. G. (2013). Lipodermoid in a patient with Emanuel syndrome. Journal of AAPOS, 17(2), 211-213. https://doi.org/10.1016/j.jaapos.2012.11.011