Park et al1 | Dallapiccola et al2 | Khalifa et al3 | Levin et al4 | Mickelson et al5 | Present case | |
Birth details | ||||||
Gestation | 41.5 wk | Term | 41.5 wk | 35 wk, 3 d | 39 wk | 32 wk |
Delivery | Caesarean | SVD | SVD | Caesarean | SVD | Caesarean |
Birth weight (g) | 2370 | 2780 | 3425 | 1160 | 2590 | 1430 |
Birth OFC (cm) | 30.5 | 33 | 32 | 27 | − | 27 |
Birth length (cm) | 47 | 47 | 52 | 36 | 49 | − |
Sex | F | M | M | F | F | M |
Craniofacial | ||||||
Microbrachycephaly | + | + | + | − | + | − |
Round face | + | ? | + | − | + | + |
Hypertelorism | + | + | + | + | − | + |
Upward slanting palpebral fissures | + | + | + | − | + | + |
Posteriorly rotated and low set ears | + | − | + | + | − | − |
Long philtrum | + | + | − | − | − | − |
Downturned mouth | + | − | − | − | + | + |
Abnormal palate | − | + | − | + | + | − |
Abnormal uvula | + | − | − | + | − | − |
Micrognathia | + | +/− | + | − | Mild | − |
CNS | ||||||
Radiological cerebral abnormalities | + | + | − | − | − | − |
Developmental delay | Mild to mod | ? | Mod to severe | ? | Mod to severe | ? |
Skeletal | ||||||
Proximal placement of the thumbs | + | + | + | + | + | + |
Symphalangism | ? | + | + | − | + | − |
Other | ||||||
TOF | + | + | − | − | − | + |
Oesophageal atresia | − | + | − | − | − | + |
Congenital heart defect | − | + | − | + | − | + |
Death | − | 4 mth | − | 17 d | − | 3.5 mth |
Cytogenetics | ||||||
Karyotype | 46,XX,del(17) (q21.3q23) | 46,XY,del(17) (q21.3q24.2) | 46,XY,del(17) (q21.3q23) | 46,XX,del(17) (q23.2q24.3) | 46,XX,del(17) (q23.1q23.3) | 46,XY,del(17) (q22q23.3) |
Parental karyotype | Normal | Normal | Normal | Normal | Normal | Normal |
SVD - spontaneous vaginal delivery
OFC - occipitofrontal circumference