John Scott1, Chad Adams1, Kirt Simmons1, Andrea Feather1, John Jones2,3, Larry Hartzell3, Lucia Wesley3, Adam Johnson3, Jennifer Fish4, Katherine Bosanko5, Stephen Beetstra1, Yuri A Zarate6,7. 1. Center for Dental Education, University of Arkansas for Medical Sciences, Little Rock, AR, USA. 2. Department of Surgery, Plastic and Reconstructive Surgery, University of Arkansas for Medical Sciences, Little Rock, AR, USA. 3. Department of Otolaryngology, Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, AR, USA. 4. Department of Biological Sciences, University of Massachusetts Lowell, Lowell, MA, USA. 5. Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA. 6. Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA. yazarate@uams.edu. 7. Arkansas Children's Hospital, Little Rock, USA. yazarate@uams.edu.
Abstract
OBJECTIVE: To characterize the radiographic dental phenotype of individuals with SATB2-associated syndrome (SAS). MATERIALS AND METHODS: Participants were evaluated by a multidisciplinary team during a concurrent clinic conducted during the 1st international SAS family meeting held in 2017 at a single institution. Whenever possible, panoramic and/or periapical radiographs were obtained in clinic or previously obtained and provided by the caregiver. RESULTS: Of the 37 individuals evaluated, 18 (12 males, median age 8.5 years) underwent radiographic examination. Dental radiographs revealed anomalies in all individuals starting at 2 years of age. The most consistent finding was delayed development of the mandibular second bicuspids (83%) with other common radiographic findings including delayed development of the roots of the permanent teeth (78%), severely rotated (56%) or malformed teeth (44%), and taurodontism (44%). CONCLUSIONS: Dental anomalies are fully penetrant and can be documented radiographically in all individuals with SAS. CLINICAL RELEVANCE: Dental radiographic findings of delayed second premolar development and delayed development of permanent root formation, especially concurrent with findings of taurodontism and malformed teeth, support a clinical suspicion for SAS and should help differentiate SAS from other neurodevelopmental syndromes.
OBJECTIVE: To characterize the radiographic dental phenotype of individuals with SATB2-associated syndrome (SAS). MATERIALS AND METHODS:Participants were evaluated by a multidisciplinary team during a concurrent clinic conducted during the 1st international SAS family meeting held in 2017 at a single institution. Whenever possible, panoramic and/or periapical radiographs were obtained in clinic or previously obtained and provided by the caregiver. RESULTS: Of the 37 individuals evaluated, 18 (12 males, median age 8.5 years) underwent radiographic examination. Dental radiographs revealed anomalies in all individuals starting at 2 years of age. The most consistent finding was delayed development of the mandibular second bicuspids (83%) with other common radiographic findings including delayed development of the roots of the permanent teeth (78%), severely rotated (56%) or malformed teeth (44%), and taurodontism (44%). CONCLUSIONS:Dental anomalies are fully penetrant and can be documented radiographically in all individuals with SAS. CLINICAL RELEVANCE: Dental radiographic findings of delayed second premolar development and delayed development of permanent root formation, especially concurrent with findings of taurodontism and malformed teeth, support a clinical suspicion for SAS and should help differentiate SAS from other neurodevelopmental syndromes.
Authors: Yuri A Zarate; Constance L Smith-Hicks; Carol Greene; Mary-Alice Abbott; Victoria M Siu; Amy R U L Calhoun; Arti Pandya; Chumei Li; Elizabeth A Sellars; Julie Kaylor; Katherine Bosanko; Louisa Kalsner; Alice Basinger; Anne M Slavotinek; Hazel Perry; Margarita Saenz; Marta Szybowska; Louise C Wilson; Ajith Kumar; Caroline Brain; Meena Balasubramanian; Holly Dubbs; Xilma R Ortiz-Gonzalez; Elaine Zackai; Quinn Stein; Cynthia M Powell; Samantha Schrier Vergano; Allison Britt; Angela Sun; Wendy Smith; E Martina Bebin; Jonathan Picker; Amelia Kirby; Hailey Pinz; Hannah Bombei; Sonal Mahida; Julie S Cohen; Ali Fatemi; Hilary J Vernon; Rebecca McClellan; Leah R Fleming; Brittney Knyszek; Michelle Steinraths; Cruz Velasco Gonzalez; Anita E Beck; Katie L Golden-Grant; Alena Egense; Aditi Parikh; Chantalle Raimondi; Brad Angle; William Allen; Suzanna Schott; Adi Algrabli; Nathaniel H Robin; Joseph W Ray; David B Everman; Michael J Gambello; Wendy K Chung Journal: Am J Med Genet A Date: 2018-02-13 Impact factor: 2.802
Authors: Jennifer L Fish; Brian Villmoare; Katja Köbernick; Claudia Compagnucci; Olga Britanova; Victor Tarabykin; Michael J Depew Journal: Evol Dev Date: 2011 Nov-Dec Impact factor: 1.930
Authors: Isabelle Bailleul-Forestier; Ariane Berdal; Frans Vinckier; Thomy de Ravel; Jean Pierre Fryns; Alain Verloes Journal: Eur J Med Genet Date: 2008-05-23 Impact factor: 2.708
Authors: Hemant Bengani; Mark Handley; Mohsan Alvi; Rita Ibitoye; Melissa Lees; Sally Ann Lynch; Wayne Lam; Madeleine Fannemel; Ann Nordgren; H Malmgren; M Kvarnung; Sarju Mehta; Shane McKee; Margo Whiteford; Fiona Stewart; Fiona Connell; Jill Clayton-Smith; Sahar Mansour; Shehla Mohammed; Alan Fryer; Jenny Morton; Detelina Grozeva; Tara Asam; David Moore; Alejandro Sifrim; Jeremy McRae; Matthew E Hurles; Helen V Firth; F Lucy Raymond; Usha Kini; Christoffer Nellåker; David R FitzPatrick Journal: Genet Med Date: 2017-02-02 Impact factor: 8.822