Article
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
American journal of medical genetics. Part A - 1 Jul 2014
Isidor Bertrand, Lefebvre Tiphaine, Le Vaillant Claudine, Caillaud Gaëlle, Faivre Laurence, Jossic Frédéric, Joubert Madeleine, Winer Norbert, Le Caignec Cédric, Borck Guntram, Pelet Anna, Amiel Jeanne, Toutain Annick, Ronce Nathalie, Raynaud Martine, Verloes Alain, David Albert
Abstract excerpt
We report on two male sibs, a fetus and a newborn, with short humeri and dysmorphic facial features including blepharophimosis. The newborn also had Hirschsprung disease. Goldberg-Shprintzen syndrome and the Say-Barber-Biesecker-Young-Simpson type of Ohdo syndrome were suspected but direct sequen...
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