Physical findings at birth or diagnosis | Present Case 1 | Present Case 2 | Present Case 3 Proband | Present Case 3 Sister | Present Case 3 Father | Barber et al. (2008) Case 1 | Barber et al. (2005) Case 1 | Barber et al. (2008) Family 1 Proband | Barber et al. (2008) Family 1 Mother | Barber et al. (2008) Family 2 Proband | Barber et al. (2008) Family 2 Mother | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Ascertainment of dup(8) | CHD | AMA | AMA | AMA | AMA | 1:150 risk | DD;CHD | PNAI | Daughter | DYS | Son | |
Prenatal/ Postnatal | Pre | Pre | Pre | Pre | Pre | Pre | Post | Post | Post | Post | Post | |
Pregnancy continued | Y | Y | N | n/a | n/a | Y | n/a | n/a | n/a | n/a | n/a | |
Sex | F | M | M | F | M | F | F | F | F | M | F | |
Delivery gestation (wks) | 41 | 41+1 | 22 | < 40 | n/a | 40 | n/k | 42 | n/a | 40+5 | n/a | |
Apgar scores | 7;9 | 10;10;10 | n/a | 9 | n/a | 8;9 | n/a | n/a | n/a | n/a | n/a | |
Birth weight (kg) | 3.3 | 2.92 | n/r | 2.78 | n/k | 3.15 | n/k | 3.6 | ? | 3.39 | ? | |
OFC (cm) | 38 | 35 | n/r | ? | n/k | 33.6 | n/k | n/r | n/k | 39.5 | ? | |
Age at examination | 3/12 | Neonate | 22/52 | 15 | 45 | 15/12 | 8 | 4 | n/r | 22/12 | n/r | |
Developmental delay | n/a | n/a | n/a | ++ | ? | n | + | - | - | - | + | |
Learning difficulties | n/a | n/a | n/a | + | + | n/a | + | - | + | - | + | |
Facial dysmorphism | - | - | - | - | - | + | + | +/- | + | ++ | ++ | |
Congenital heart defects | ++ | ++ | + | ++ | - | n | + | + | - | - | - | |
Neurological defects | - | n | ?+ | + | - | n | - | + | - | - | - | |
Syndactyly | - | - | - | - | - | - | - | - | - | + | + | |
Adrenal anomalies | - | - | + | - | - | - | - | ++ | - | - | - | |
Hydronephrosis and hydroureter | - | - | + | - | - | - | - | - | - | - | - | |
Alveolar anomalies | - | - | + | - | - | - | - | - | - | - | - | |
Hearing loss | - | - | - | - | + | - | - | - | - | - | - | |
Exostoses | - | - | - | - | + | - | - | - | - | - | - |