Table 1. Clinical characteristics of patients with Kagami-Ogata Syndrome caused by a maternal microdeletion in chr14q32.2.
| Kagami et al.3 | Kagami et al.4 | Beygo et al.5 | Corsello et al.16 | Rosenfeld et al.17 |
Current study |
||||
|---|---|---|---|---|---|---|---|---|---|
| AII.1 | AII.2 | BII.1 | BII.3 | ||||||
| Number of patients | 5 | 2 | 3 | 1 | 2 | ||||
| Gender (Female:Male) | 3:2 | 2:0 | 1:2 | Female | 2:0 | Female | Male | Male | Male |
| Molecular findings | |||||||||
| IG-DMR of maternal origin | Deleted (5/5) | Deleted (1/2) | Unaffected | Unaffected | Unaffected | Unaffected | Unaffected | Deleted | Deleted |
| MEG3-DMR of maternal origin | Deleted (5/5) | Deleted (1/2) | Deleted (3/3) | Unaffected | Unaffected | Unaffected | Unaffected | Deleted | Deleted |
| Prenatal | |||||||||
| Polyhydramnios | + (4/5) | + (1/2) | + (3/3) | + | + (2/2) | ? | + | + | + |
| Other | Ultrasound finding of bell-shaped, narrow thoracic deformity | Premature labor from week 28 onward | Sonographically suspected encephalocele (not confirmed postnatally) | ||||||
| Neonatal | |||||||||
| Gestational age in weeks (range) | 27–35 | 28–33 | 32–35 | 35 | ? | 41 | 35 | 32 | 35 |
| Hypotonia | ? | ? | + (3/3) | ? | + (1/2) | + | + | + | + |
| Feeding difficulties | ? | ? | + (2/3) | + | ? | − | + | − | + |
| Thorax | |||||||||
| Bell-shaped thorax with coat-hanger ribs | + (5/5) | + (2/2) | + (3/3) | + | + (2/2) | + | + | + | + |
| Mechanicalventilation | + (5/5) | + (2/2) | + (3/3) | + | ? | − | + | − | + |
| Other | Pectus excavatum | Pectus excavatum | |||||||
| Abdomen | |||||||||
| Diastasis recti | + (2/5) | ? | + (1/3) | + | − | + | − | ||
| Omphalocele | − | + (2/2) | ? | − | − | − | − | ||
| Other | Bilateral hydronephrosis (1/2) | Umbilical hernia (1/3), inguinal hernia (1/3) | Bilateral inguinal hernia | Bilateral inguinal hernia and umbilical hernia | |||||
| Extremities | |||||||||
| Joint contractures | + (2/5) | + (1/2) | ? | + | − | − | + | − | − |
| Hyperextensibility of small joints | ? | ? | − | ? | ? | + | |||
| Development | |||||||||
| Education | ? | ? | ? | ? | ? | ++ | − | +/− | +/− |
| Developmental delay | + (3/5) | ? | + (2/3) | ? | ? | − | + | +/− | + |
Abbreviation: IG-DMR, intergenic differentially methylated region. +, feature is present; −, feature is absent; ?, feature is not described as present or absent.