Table 1. Summary of previously reported cases of KOS included in this literature review.
| Reference (year) | Pts ( n ) | Genetic cause of KOS | Facial gestalt | Mechanical ventilation | Develop-mental delay | At the time of report | Cause(s) of death | ||
|---|---|---|---|---|---|---|---|---|---|
| Age | Alive | Dead | |||||||
| Wang et al 1 (1991) | 1 | UPD(14) with RT [45,XX,t(13q14q)] |
1 | Not specified | 1 | 9 y | 1 | 0 | n/a |
| Papenhausen et al 43 (1995) | 1 | UPD(14) with RT [45,XX,t(14q14q)] |
1 | 1 | 1 | 20 mo | 1 | 0 | n/a |
| Walter et al 7 (1996) | 1 | UPD(14) with RT [45,XY,idic(14)(p11)] |
1 | 1 | 0 | 6 mo | 1 | 0 | n/a |
| Cotter et al 9 (1997) | 1 | UPD(14) with RT [45,XX,der(13;14)(q10;q10)] |
1 | 1 | 1 | 6 mo | 0 | 1 | Pulmonary complications |
| Yano et al 44 (2001) | 1 | UPD(14)pat with RT [45,XX,der(14;14)(q10;q10)] |
1 | Not specified | Not specified | Not specified | Not specified | Not specified | |
| McGowan et al 45 (2002) | 1 | UPD(14) with RT [45,XX,der(14;14)(q10;q10)] |
1 | 1 | n/a | 6 wk | 0 | 1 | Care withdrawn |
|
Coveler et al
8
(2002)/Towner et al 41 (2001) |
1 | UPD(14)pat without RT | 1 | 1 | 1 | 19 mo (vegetative state) |
1 | 0 | n/a |
| Offiah et al 6 (2003) | 1 | UPD(14)pat without RT | 1 | 1 | n/a | 6 wk | 0 | 1 | Care withdrawn |
| Chu et al 13 (2004) | 1 | UPD(14)pat without RT | 1 | 1 | 1 | 3 mo | 0 | 1 | Respiratory infection |
| Stevenson et al 46 (2004) | 1 | UPD(14) with RT [45,XX,inv(9)(p11q13),dic(14;14)(p11.1;p11.1)] |
1 | 1 | 1 | 7 mo | 1 | 0 | n/a |
| Curtis et al 35 (2006) | 1 | UPD(14)pat without RT | 1 | 1 | 1 | 9 mo | 0 | 1 | Care withdrawn |
| Mattes et al 11 (2007) | 1 | UPD(14)mosaic 47,XX + mar(14)[44]/46,XX[6] |
1 | 1 | 1 | 5 mo | 0 | 1 | Respiratory infection |
| Irving et al 14 (2010) | 1 | UPD(14)pat without RT | 1 | 1 | n/a | 9 wk | 0 | 1 | Care withdrawn |
| Sargar et al 15 (2014) | 1 | UPD(14)pat without RT | 1 | 1 | Not specified | 4 mo | 0 | 1 | Comfort care only |
| Suzumori et al 33 (2010) | 1 | UPD(14)pat without RT | 1 | 1 | 1 | 8 mo | 1 | 0 | n/a |
| Yamanaka et al 32 (2010) | 2 a | UPD(14)pat without RT | Not specified | 2/2 | 1/2 a | 4 mo–1 y | 1 | 1 | Hepatic failure (4 mo) |
| Boiffard et al 17 (2014) | 1 | Not reported | 1 | Not specified | 0 | 2 y | 1 | 0 | n/a |
| Beygo et al 47 (2015) | 1 | Microdeletion [de novo] | Not specified | 1 | 1 | 27 mo | 1 | 0 | n/a |
| 2 | Microdeletion [maternally inherited] | 2 | 1/2 | 1/2 | 10 mo–5.5 y | 2 | 0 | n/a | |
| Watanabe et al 34 (2015) | 1 | Epimutation | 1 | Not specified | Not specified | Not specified | Not specified | Not specified | |
| Kagami et al 3 (2015) | 2 | 2 UPD(14)pat with RT [45,XX,rob(13;14)(q10;q10) and 45,XX,rob(14;21)(q10;q10)] |
2/2 | 1/2 | 1/2 b | 8 mo–1 y, 8 mo | 1 | 1 | Hepatoblastoma (8 mo) |
| 20 | UPD(14)pat without RT | 20/20 | 19/20 | 20/20 | 6 mo–15 y | 17 | 3 | Influenza (3 y, 2 mo), NEC (6 mo), hemophagocytic syndrome (17 mo) | |
| 1 | UPD(14)pat with karyotype unknown | 1/1 | 1/1 | n/a | 2 h | 0 | 1 | Respiratory failure | |
| 5 | Epimutation | 5/5 | 5/5 | 5/5 | 9 mo–5.5 y | 5 | 0 | n/a | |
| 2 | Microdeletion [de novo] | 2/2 | 2/2 | 1/2 c | 4 d–3 y, 10 mo | 0 | 2 | Intracranial hemorrhage (4 d), care withdrawn (3 y, 11 mo) | |
| 4 | Microdeletion [maternally inherited] | 4/4 | 4/4 | 4/4 | 9 mo–8 y, 11 mo | 3 | 1 | Sudden death due to URI (9 mo) | |
| Schmeh et al 12 (2016) | 1 | Not reported | 1 | 1 | Not specified | 4 mo | 0 | 1 | Care withdrawn |
| Yuan et al 21 (2016) | 1 | UPD(14)pat without RT | 1 | 0 | 1 | 2 y | 1 | 0 | n/a |
| Vecchio and Giuffrè 48 (2016) | 1 | UPD(14)pat without RT | 1 | 0 | Not specified | 35 d | 1 | 0 | n/a |
| van der Werf et al 18 (2016) | 4 | Microdeletions [maternally inherited] | 4/4 | 2/4 | 4/4 | 3–32 y | 4 | 0 | n/a |
| Haug et al 28 (2017) | 1 | UPD(14)pat Mosaicism [46,XX/46,XX upd(14)pat] |
1 | 0 | 0 | 13 y | 1 | 0 | n/a |
| Chen et al 30 (2019) | 1 | UPD(14)pat without RT | 1 | n/a | n/a | n/a | 0 | 1 | Termination of pregnancy at 21.5 wk of gestation |
| Huang et al 49 (2019) | 1 | Microdeletion [de novo] | 1 | 1 | 1 | 2.5 y | 1 | 0 | n/a |
| Luk 27 (2017) | 2 | Microdeletion [maternally inherited] | 2/2 | 2/2 | 2/2 | 3–5 y | 2 | 0 | n/a |
| Yamagata et al 19 (2018) | 1 | Not reported | Not specified | 1 | Not specified | 2 y | 1 | 0 | n/a |
| Igreja da Silva et al 16 (2019) | 1 | UPD(14)pat with RT [45,XX,der(13;14)(q10;q10)] |
Not specified | n/a | n/a | 3 h | 0 | 1 | Comfort care only |
| Wang et al 20 (2020) | 1 | UPD(14)pat with RT [45,XY,der(13;14)(q10;q10)] |
1 | Not specified | 1 | 20 mo | 1 | 0 | n/a |
| Altmann et al 40 (2020) | 1 | Microdeletion | 1 | 1 | 1 | 15 mo | 1 | 0 | n/a |
| Al-Mudares and Fernandes 50 (2020) | 1 | Not reported | Not specified | 1 | n/a | 4 wk | 0 | 1 | Omphalocele and septic shock |
| Jung et al 10 (2018) | 1 | Microdeletion [maternally inherited] | 1 | 1 | 1 | 2 mo | 1 | 0 | n/a |
| Corsello et al 26 (2015) | 1 | Microdeletion [de novo, not involving the 2 DMRs] | 1 | 1 | Not specified | 5 mo | 1 | 0 | n/a |
| This report (2021) | 2 | 1 Epimutation 1 Unknown |
2/2 | 2/2 | 2/2 | 2.5 mo–3 y, 3 mo | 0 | 2 | Care withdrawn (2.5 mo), cardiac arrest (3 y, 3 mo) |
Abbreviations: DMRs, differentially methylated regions; KOS, Kagami-Ogata syndrome; n/a, not applicable; NEC, necrotizing enterocolitis; Pts, patients; RT, Robertsonian translocation; UPD(14)pat, uniparental disomy of chromosome 14; URI, upper respiratory infection.
a
Four cases were reported by Yamanaka et al, of which two cases were also reported by Kagami et al (2015) more comprehensively and have been included below. Developmental status of the infant who died at 4 months of age has not been specified.
b
Developmental status in one patient not specified.
c
Developmental delay assessment not possible in infant who died at 4 days of life.