Article
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).
Bone - 1 Feb 2018
Otaify Ghada A, Whyte Michael P, Gottesman Gary S, McAlister William H, Eric Gordon J, Hollander Abby, Andrews Marisa V, El-Mofty Samir K, Chen Wei-Shen, Veis Deborah V, Stolina Marina, Woo Albert S, Katsonis Panagiotis, Lichtarge Olivier, Zhang Fan, Shinawi Marwan
Abstract excerpt
Gnathodiaphyseal dysplasia (GDD; OMIM #166260) is an ultra-rare autosomal dominant disorder caused by heterozygous mutation in the anoctamin 5 (ANO5) gene and features fibro-osseous lesions of the jawbones, bone fragility with recurrent fractures, and bowing/sclerosis of tubular bones. The physiologic role of ANO5 is unknown. We report a 5-year-old boy with a seemingly atypical and especially severe presentation...
Topics
Join the communities discussing this publication.