title: Lipodermoid in a patient with Emanuel syndrome.
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.
authors.affiliation: Department of Ophthalmology, University of California-San Francisco, San Francisco, California, USA.
authors.forename: Tanya S
authors.initials: TS
authors.lastname: Glaser
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Rauen
authors.forename: Linda J B
authors.initials: LJ
authors.lastname: Jeng
authors.forename: Alejandra G
authors.initials: AG
authors.lastname: de Alba Campomanes
mesh_terms: D025063:Chromosome Disorders / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D003230:Conjunctival Neoplasms / Q000473:pathology*; D003884:Dermoid Cyst / Q000473:pathology*; D006053:Goldenhar Syndrome / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008067:Lipoma / Q000473:pathology*; D008297:Male; D009123:Muscle Hypotonia / Q000473:pathology*; D010641:Phenotype