W-H Boehncke1, J Schultz, R Kaufmann, F R Ochsendorf. 1. Zentrum der Dermatologie und Venerologie, Johann Wolfgang Goethe-Universität, Frankfurt am Main. Boehncke@em.uni-frankfurt.de
Abstract
BACKGROUND: Neuroectodermal syndromes are complex because of their rarity and overlapping clinical manifestations making differential diagnosis problematic. CASE REPORT: A 2-year old girl presented with a phenotype characterized by bilateral pre-auricular tags, a fistula of the right cheek, hemifacial microsomia, and a limbus dermoid on the right eye. This constellation is characteristic for the Goldenhar syndrome. Following excision of the tags and fistula along with a keratoplasty, the child developed normally. CONCLUSION: The exact diagnosis of a neuroectodermal syndrome facilitates identification of associated symptoms. Early surgical therapy may prevent the development of functional deficits.
BACKGROUND:Neuroectodermal syndromes are complex because of their rarity and overlapping clinical manifestations making differential diagnosis problematic. CASE REPORT: A 2-year old girl presented with a phenotype characterized by bilateral pre-auricular tags, a fistula of the right cheek, hemifacial microsomia, and a limbus dermoid on the right eye. This constellation is characteristic for the Goldenhar syndrome. Following excision of the tags and fistula along with a keratoplasty, the child developed normally. CONCLUSION: The exact diagnosis of a neuroectodermal syndrome facilitates identification of associated symptoms. Early surgical therapy may prevent the development of functional deficits.
Authors: M R Araneta; C A Moore; R S Olney; L D Edmonds; J A Karcher; C McDonough; K M Hiliopoulos; K M Schlangen; G C Gray Journal: Teratology Date: 1997-10