Table 1.
List of Included Cases.
| Author | Year | Age (Years) | Sex | Single or Multiple | Location | Syndrome | Spine | GU | Cardiac | GI | Endo | Neuro | Lab | MSK | CF |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Frederick | 1945 | 38 | M | Single | L3 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Frederick | 1945 | 23 | M | Single | T7 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Franciosi | 1951 | 28 | M | Multiple | L3, L4 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Cave | 1957 | 32 | F | Single | T7 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Lagarde | 1960 | 20 | F | Multiple | L3, L4 | None | (+) | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Lagarde | 1960 | 26 | F | Single | T12 | None | (+) | (–) | (+) | (–) | (–) | (–) | (–) | (–) | (–) |
| Schwartz | 1960 | 28 | M | Single | T7 | Calyceal diverticuli | (–) | (+) | (+) | (–) | (–) | (–) | (+) | (+) | (–) |
| Schwartz | 1960 | 18 | M | Single | T11 | Calyceal diverticuli | (–) | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Colquhoun | 1968 | 12 | F | Single | T9 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Colquhoun | 1968 | 46 | M | Single | T7 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Colquhoun | 1968 | 56 | F | Single | T11 | None | (+) | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Colquhoun | 1968 | 46 | F | Single | T11 | None | (+) | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Tamagawa | 1972 | 25 | F | Single | T7 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Mitchell | 1981 | 0.42 | F | Multiple | T8 | 4q21 Interstitial deletion | (+) | (–) | (+) | (+) | (–) | (+) | (+) | (+) | (+) |
| De Graaf | 1982 | 39 | M | Single | L5 | None | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (–) |
| Dastur | 1985 | 13 | M | Single | L2 | Goldenhar | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (+) |
| Garcia-Cruz | 1985 | 16 | M | Multiple | T2-T9 | 20p12.2 deletion | (+) | (–) | (+) | (–) | (+) | (+) | (–) | (+) | (+) |
| Schlitt | 1989 | 42 | F | Single | C4 | Klippel-Feil | (+) | (–) | (+) | (–) | (+) | (+) | (+) | (–) | (–) |
| Rose | 1991 | 0.13 | M | Multiple | T4, T6 | Deletion of 4(q21q25) | (–) | (+) | (+) | (–) | (–) | (+) | (–) | (+) | (+) |
| Mahajan | 1992 | 24 | F | Single | T11 | Mullerian agenesis | (+) | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Garcia | 1993 | 58 | F | Single | T11 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Garcia | 1993 | 61 | F | Single | T11 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| McCall | 1994 | 7.67 | M | Multiple | Not reported | Jarcho-Levin, spondylocostal dysostosis | (+) | (–) | (+) | (+) | (–) | (–) | (–) | (+) | (+) |
| Maillefert | 1995 | 34 | M | Multiple | T8, T10 | Alagille | (–) | (–) | (–) | (+) | (–) | (–) | (+) | (–) | (+) |
| Delgado | 1996 | 41 | M | Single | L3 | None | (+) | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Herman | 1996 | 0.06 | F | Single | T7 | I-cell disease (neonatal type II mucolipidosis) | (–) | (–) | (–) | (–) | (+) | (–) | (+) | (+) | (–) |
| Funke | 2001 | 31 | M | Single | T8 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Sonel | 2001 | 37 | M | Single | L3 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Brasili | 2002 | 36 | F | Multiple | L5, S1 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Przkora | 2002 | 14 | F | Multiple | T1, T4, T7, T8, T10, T11, L3 | Alagille | (+) | (–) | (+) | (+) | (+) | (–) | (–) | (+) | (–) |
| Chan | 2003 | 1.15 | M | Multiple | T1-T5 | Klippel-Feil | (+) | (+) | (–) | (–) | (–) | (+) | (–) | (+) | (–) |
| Ryan | 2003 | 39 | F | Multiple | T6, T8 | Alagille | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Anderson | 2003 | 7 | N/A | Single | C3 | Pfeiffer’s | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Rahimi-Movaghar | 2004 | 15 | M | Multiple | T2-T6 | Klippel-Feil | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (+) | (+) |
| Satpathy | 2004 | 13 | F | Single | L1 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Dejardin | 2004 | 6 | F | Single | Lumbar, not specified | None | (–) | (+) | (+) | (–) | (–) | (+) | (–) | (–) | (+) |
| Anderson | 2005 | 0.17 | M | Single | C6 | Goldenhar | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (+) |
| Anderson | 2005 | 8 | M | Single | T4 | Goldenhar | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (+) |
| Anderson | 2005 | 1 | M | Single | C4 | Goldenhar | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (+) |
| Vázquez-López | 2005 | 0.65 | F | Multiple | T3-T5, L3 | Jarcho-Levin, spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Ahn | 2005 | 12 | F | Multiple | Multiple, thoracic not specified | Delta phalanges plus | (+) | (–) | (+) | (–) | (–) | (+) | (–) | (+) | (+) |
| Atar | 2006 | 2 | M | Single | T9 | Kabuki | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (+) |
| Takikawa | 2006 | 4 | M | Multiple | C6, C7 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 2 | F | Multiple | C6, C7 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 4 | F | Multiple | L5, S1 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 3 | M | Multiple | L5, S1-S3 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 5.5 | M | Multiple | C6, C7, T1-T3, L4, L5, S1, S2 | Spondylocostal dysostosis | (+) | (–) | (–) | (+) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 0.17 | F | Single | T11 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (+) |
| Takikawa | 2006 | 6.5 | F | Multiple | C6, C7 | Spondylocostal dysostosis | (+) | (–) | (+) | (–) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 18 | F | Multiple | C6, C7 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (+) |
| Takikawa | 2006 | 18 | F | Multiple | C5, C7 | Spondylocostal dysostosis | (+) | (+) | (+) | (–) | (–) | (+) | (–) | (+) | (–) |
| Takikawa | 2006 | 17 | F | Multiple | C5, C7, T4 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 13 | F | Multiple | T6-T8 | Spondylocostal dysostosis | (+) | (–) | (–) | (+) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 0.75 | M | Multiple | C6, C7, L2, S1, S2 | Spondylocostal dysostosis | (+) | (–) | (–) | (+) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 5 | M | Multiple | C5, C6, L2 C7, S1, S2 | Spondylocostal dysostosis | (+) | (+) | (–) | (+) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 3 | M | Multiple | C6, C7 | Spondylocostal dysostosis | (+) | (+) | (+) | (+) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 2 | M | Multiple | T6, T9, T10, T12 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 9.5 | M | Multiple | T4, T5 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Takikawa | 2006 | 2 | F | Multiple | T7, T9 | Spondylocostal dysostosis | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Zeglam | 2006 | 2.5 | F | Single | T12 | None | (+) | (–) | (+) | (–) | (–) | (+) | (–) | (+) | (–) |
| Zeglam | 2006 | 54 | M | Single | L4 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Pasku | 2007 | 25 | F | Single | C2 | None | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (–) |
| Rossi | 2007 | 7 | F | Single | T8 | Lathosterolosis | (–) | (+) | (–) | (+) | (–) | (+) | (+) | (+) | (+) |
| Robert | 2007 | 5 | M | Multiple | Nonspecific thoracic and lumbar | Alagille | (–) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Küpeli | 2008 | 0.17 | F | Multiple | T3, T8 | Wilms’ tumor | (+) | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Patinharayil | 2008 | 46 | F | Single | T6 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Wang | 2008 | 2 | N/A | Single | T6 | Alagille | (–) | (+) | (+) | (+) | (–) | (–) | (+) | (–) | (+) |
| Wang | 2008 | 5 | N/A | Multiple | T3, T4 | Alagille | (–) | (–) | (+) | (+) | (–) | (–) | (+) | (–) | (+) |
| Wang | 2008 | 3 | N/A | Multiple | T4,T6-T10 | Alagille | (–) | (–) | (+) | (+) | (–) | (–) | (+) | (–) | (+) |
| Wang | 2008 | 4 | N/A | Multiple | T4, T7, T9 | Alagille | (–) | (–) | (–) | (+) | (–) | (–) | (+) | (–) | (+) |
| Wang | 2008 | 2 | N/A | Multiple | T4-T9 | Alagille | (–) | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (+) |
| Ekim | 2010 | 32 | M | Single | L2 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Qian | 2010 | 26 | M | Single | L4 | Ankylosing spondylitis | (+) | (–) | (–) | (–) | (–) | (–) | (+) | (–) | (–) |
| Qian | 2010 | 40 | M | Single | L5 | Ankylosing spondylitis | (+) | (–) | (–) | (–) | (–) | (–) | (+) | (–) | (–) |
| Tuncel | 2010 | 27 | M | Single | L2 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Boulet | 2011 | 35 | M | Single | S1 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Cho | 2011 | 56 | F | Single | L4 | None | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (–) |
| Choi | 2011 | 46 | M | Single | C1 | None | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (–) |
| Choi | 2011 | 5 | M | Single | C4 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Cui | 2011 | 13 | F | Single | L6 | None | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (–) |
| Massobrio | 2011 | 5 | M | Multiple | T7-T11 | Alagille | (–) | (–) | (–) | (+) | (–) | (–) | (–) | (+) | (+) |
| Jarzabek | 2012 | 24 | F | Multiple | T9-T11 | Kallman | (+) | (–) | (–) | (–) | (+) | (+) | (–) | (+) | (+) |
| Jarzabek | 2012 | 28 | M | Single | L2 | Kallman | (+) | (+) | (–) | (–) | (–) | (+) | (–) | (–) | (+) |
| Kilgore | 2012 | 33 | M | Single | T8 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Zarate | 2012 | 0.75 | F | N/A | N/A | Kabuki | (–) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Ditkofsky | 2013 | 51 | F | Single | T9 | None | (+) | (–) | (–) | (+) | (+) | (+) | (–) | (+) | (–) |
| Zuo | 2013 | 24 | F | Single | L4 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Patra | 2013 | 10 | F | Single | C2 | None | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (–) |
| Aygün | 2014 | 0.06 | M | Single | T8 | Fryns | (–) | (+) | (+) | (+) | (–) | (–) | (–) | (+) | (+) |
| Canitez | 2014 | 0.33 | F | Single | T7 | Lung agenesis | (–) | (+) | (–) | (–) | (–) | (–) | (–) | (+) | (+) |
| Ekiz | 2014 | 40 | M | Single | L4 | None | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (–) |
| Frost | 2014 | 54 | M | Single | T8 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Sandal | 2014 | 0.67 | M | Multiple | T9, T11 | VACTERL | (–) | (+) | (+) | (+) | (–) | (–) | (–) | (+) | (–) |
| Youssef | 2014 | 0.5 | M | Single | T12 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Cheng | 2015 | 50 | F | Multiple | T10, L2, L4 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Diehl | 2015 | 3 | F | Multiple | T5, T7 | Micro duplication of 22q11.21 | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (+) | (–) |
| Hawkes | 2015 | 1 | F | Multiple | T9, T10 | Myhre | (+) | (–) | (+) | (–) | (–) | (+) | (–) | (+) | (+) |
| Hopkins | 2015 | 21 | M | Single | L4 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Karargyris | 2015 | 40 | F | Single | L4 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Ozaras | 2015 | 38 | M | Multiple | T9, L3 | Behçet’s disease | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Sifuentes | 2015 | 62 | F | Single | T10 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Esen | 2016 | 5.5 | F | Single | T12 | None | (–) | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Esen | 2016 | 56 | M | Single | L4 | None | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Guo | 2016 | 4 | M | Single | T1 | None | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Kapetanakis | 2016 | 40 | F | Single | S1 | None | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (–) |
| Karaca | 2016 | 42 | F | Single | T1 | Klippel-Feil | (+) | (–) | (–) | (–) | (–) | (–) | (–) | (–) | (–) |
| Slouma | 2016 | 55 | F | Multiple | T9-T12, L3 | None | (–) | (–) | (–) | (+) | (–) | (–) | (–) | (–) | (–) |
| Deepak | 2017 | 14 | M | Single | C3 | None | (+) | (–) | (–) | (–) | (–) | (+) | (–) | (–) | (+) |
| Hannoush | 2017 | 1 | M | Multiple | T4, T6, T8 | Alagille | (–) | (+) | (+) | (+) | (–) | (–) | (+) | (–) | (+) |
Abbreviations: M, male; F, female; GU, genitourinary; Cardiac, cardiovascular/chest; GI, gastrointestinal; Endo, endocrine; Neuro, neurologic; Lab, laboratory values; MSK, musculoskeletal/other; CF, craniofacial; N/A, not available; VACTERL, vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities.