Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
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
Аннотация
METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature.
RESULTS: We identified 53 individuals, 44 with CNS and 40 with skeletal imaging. Common CNS findings included incomplete hippocampal inversion and posterior fossa malformations; these were significantly more common than previously reported (63.4% and 65.9% vs 1.1% and 24.7%, respectively). Additional features included patulous internal auditory canal, never described before in KBG syndrome, and the recurrence of ventriculomegaly, encephalic cysts, empty sella and low-lying conus medullaris. We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised abnormalities of the spine including scoliosis, coccygeal anomalies and cervical ribs. Hand X-rays revealed frequent abnormalities of carpal bone morphology and maturation, including a greater delay in ossification compared with metacarpal/phalanx bones.
CONCLUSION: This cohort enabled us to describe the prevalence of very heterogeneous neuroradiological and skeletal anomalies in KBG syndrome. Knowledge of the spectrum of such anomalies will aid diagnostic accuracy, improve patient care and provide a reference for future research on the effects of ANKRD11 variants in skeletal and brain development.