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Table 2 Review and data summary of PFE cases reported in the literature

From: Primary failure of eruption (PFE): a systematic review

Author No. of patients Gender, Age First tooth affected Family affected Primary teeth affected Further dental anomalies Side affected Typ of PFE PTH1R Variants Skeletal class Treatment
Jelani et al. 2016 [14] 4 Female 12 y Female 16 y Female 19 y Female 21 y N/A Family affected N/A Hypodontia N/A N/A c.611 T > A N/A N/A
Pilz et al. 2014 [17] 23 Female: 14 Male: 9 Posterior teeth 5 patients with affected family members 10 patients with affected primary teeth N/A bilateral: 20 unilateral: 3 Typ I: 4 Typ II: 6 Typ III: 13 463G > T 1016G > A 356C > T 1050-3C > G 813dupT 436C > T 1093delG 331G > T 543 + 1G > A Arg213X N/A N/A
Roth et al. 2014 [18] 70 N/A N/A N/A N/A N/A N/A N/A c.75 + 9C > T c.310C > T c.322delT c.331G > T c.356C > T c.434A > G c.436C > A c.436C > T c.439C > T c.543 + 1G > T c.590 T > A c.636dupT c.639-2A > C c.639-2A > G c.695 T > G c.698G > A c.813dupT c.875 T > C c.1016G > A c.1036delC c.1093delG c.1142 T > G c.1148G > A c.1182C > T c.1305G > A c.1324C > G c.1355G > A c.1389 T > C c.1636G > A c.1736A > C N/A N/A
Frazier-Bowers et al. 2014 [9] 54 6–68 y N/A 7 isolated cases, 47 cases family affected N/A N/A N/A Typ I in 2 families, Typ II in 8 families c.996_997insC c.572delA N/A N/A
Risom et al. 2013 [20] 12 Female: 58 y Female: 29 y Female: 23 y Female: 28 y Female: 17 y Female: 57 y Female: 22 y Male: 58 y Male: 20 y Male: 27 y Male: 46 y Male: 15 y Molar, premolar Molar, premolar Molar, premolar Molar, premolar Molar, premolar Molar, premolar Molar, premolar Molar, premolar Molar Molar Molar Molar, premolar All cases family affected N/A N/A Both Both Both Both Both Both Both Both Both Both Both Both N/A c.356C > T c.395C > T c.439C > T c.463G > T c.543 + 1G > A c.544-26_544-23del c.892 T > G c.947C > A c.989G > T c.1050-3C > G c.1082G > A c.1148G > A c.1348_1350del c.1354-1G > A N/A N/A
Rhoads et al. 2013 [19] 58 Gender: unknown Age: 24/58 available: 6–18 y Molar affected: 20 Molar and premolar affected: 38 N/A Primary teeth affected reported in 12 cases Alterations in root morphology: 11 Hypodontia: 4 Delayed eruption: 6 Impacted teeth: 10 Transposition of teeth: 2 Unilateral: 27 Bilateral: 31 Typ I: 29 Typ II: 19 Typ III: 10 11 cases with genetic analysis 1092delG as new mutation identified Class III: 18 cases N/A
Stellzig-Eisenhauer et al. 2010 [22] 13 N/A Molars affected: 2 Molars and premolars affected: 11 All cases family affected One case reported N/A Unilateral: 5 Bilateral: 8 N/A c.1050-3C > G c.543 + 1G > A c.436G > T N/A N/A
Yamaguchi et al. 2011 [21] 5 Female 36 y Female 9 y Male 17 y Male 22 y Male 19 y Molar Molar, Premolar N/A N/A N/A All cases family affected One case primary teeth affected No further anomalies 1 case both sides, 4 cases one sight affected N/A R383Q P119L P132L R147C N/A 2 cases without therapy, 2 cases unsuccesful orthodontic treatment, one case segmental osteotomie
Frazier-Bowers et al. 2010 [25] 4 2 Male, 2 Female N/A Family affected N/A N/A unilateral left: 1 unilateral right: 1 bilateral: 2 2 cases Typ I, 2 cases Typ II c.1353-1G > A 2 cases Class III, 1 case Class I,1 case N/A 1 case: orthodontic extrusion of non affected teeth, 3 cases N/A
Decker et al 2008 [8] 13 N/A Molars affected: 2 Molars and premolars affected: 11 Family affected N/A N/A Unilateral right side: 1 Bilateral: 12 N/A c.1050-3C > G c.543 + 1G > A c.463G > T N/A N/A
Sharma et al. 2016 [6] 15 Age: 6–55 years Gender: N/A Molars affected: 5 Molars and premolars affected: 10 N/A 3 cases hypercementosis, hyperdontia, curved root formations, delayed root development bilateral: 7 unilateral: 8 N/A N/A III: 7 II: 5 N/A: 3 surgical removed (5), unsucesfull orthodontic alignment (4), no treatment (3), overdentures (1), orthodontic alignment of upper +lower labial segments (1), N/A (1)
Jain et al. 2015 [15] 1 Male 15 y Molar and premolar affected N/A N/A N/A both Typ III N/A N/A N/A
Aruna et al. 2014 [16] 1 Male 18 y Molar Not affected None Hyperdontia 13: MFE right Typ II N/A N/A N/A
Cohen-Lévy 2011 [23] 1 Male, 10 Molars Family affected Affected No further anomalies Left side N/A N/A Class I Extraction
Mc Cafferty et al. 2010 [24] 1 Female 8 y Molars Family not affected Affected One tooth peg-shaped Right side Typ II N/A N/A Extraction
Proff et al. 2006 [26] 1 Gender: N/A 10y Molars Family affected Primary teeth affected One teeth with MFE Bilateral Typ I N/A N/A N/A
Frazier-Bowers 2007 [3] 38 N/A N/A All cases family affected Primary teeth affected: 8 cases 2 cases with Hyperdontia N/A Typ I: 17 cases Typ II: 11 cases Typ III: 10 cases N/A N/A N/A