Article
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Journal of medical genetics - 27 Nov 2023
Peluso Francesca, Caraffi Stefano G, Contrò Gianluca, Valeri Lara, Napoli Manuela, Carboni Giorgia, Seth Alka, Zuntini Roberta, Coccia Emanuele, Astrea Guja, Bisgaard Anne-Marie, Ivanovski Ivan, Maitz Silvia, Brischoux-Boucher Elise, Carter Melissa T, Dentici Maria Lisa, Devriendt Koenraad, Bellini Melissa, Digilio Maria Cristina, Doja Asif, Dyment David A, Farholt Stense, Ferreira Carlos R, Wolfe Lynne A, Gahl William A, Gnazzo Maria, Goel Himanshu, Grønborg Sabine Weller, Hammer Trine, Iughetti Lorenzo, Kleefstra Tjitske, Koolen David A, Lepri Francesca Romana, Lemire Gabrielle, Louro Pedro, McCullagh Gary, Madeo Simona F, Milone Annarita, Milone Roberta, Nielsen Jens Erik Klint, Novelli Antonio, Ockeloen Charlotte W, Pascarella Rosario, Pippucci Tommaso, Ricca Ivana, Robertson Stephen P, Sawyer Sarah, Falkenberg Smeland Marie, Stegmann Sander, Stumpel Constanze T, Goel Amy, Taylor Juliet M, Barbuti Domenico, Soresina Annarosa, Bedeschi Maria Francesca, Battini Roberta, Cavalli Anna, Fusco Carlo, Iascone Maria, Van Maldergem Lionel, Venkateswaran Sunita, Zuffardi Orsetta, Vergano Samantha, Garavelli Livia, Bayat Allan
Abstract excerpt
BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined. METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed...
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