Article
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Human mutation - 1 May 2022
Vegas Nancy, Demir Zeynep, Gordon Christopher T, Breton Sylvain, Romanelli Tavares Vanessa L, Moisset Hugo, Zechi-Ceide Roseli, Kokitsu-Nakata Nancy M, Kido Yasuhiro, Marlin Sandrine, Gherbi Halem Souad, Meerschaut Ilse, Callewaert Bert, Chung Brian, Revencu Nicole, Lehalle Daphné, Petit Florence, Propst Evan J, Papsin Blake C, Phillips John H, Jakobsen Linda, Le Tanno Pauline, Thévenon Julien, McGaughran Julie, Gerkes Erica H, Leoni Chiara, Kroisel Peter, Tan Tiong Y, Henderson Alex, Terhal Paulien, Basel-Salmon Lina, Alkindy Adila, White Susan M, Passos-Bueno Maria R, Pingault Véronique, De Pontual Loïc, Amiel Jeanne
Abstract excerpt
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a "Question Mark Ear" (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of...
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