Patients | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 |
---|---|---|---|---|---|---|---|---|---|
Gender | M | M | M | M | M | F | M | F | F |
Age at presentation(days) | 5 | 0 | 23 | 2 | 0 | 6 | 0 | 0 | 1 |
Gestation Age (weeks) | 39.86 | 38.29 | 41 | 36.14 | 39.29 | 37 | 40.43 | 31.86 | 37.29 |
Birth weight (g) | 3800 | 3050 | 4750 | 3350 | 3620 | 3760 | 4400 | 2735 | 3505 |
Birth length (cm) | 51 | 48 | 56 | 49 | 48 | 49 | 56 | 46 | 48 |
Paternal age (years) | 34 | 43 | 32 | Unknown | 28 | 30 | 35 | 37 | 35 |
Prenatal assessment | Uneventful | Nuchal cystic hygroma and renal abnormality | Nuchal cystic hygroma and renal abnormality | Uneventful | Uneventful | Uneventful | Uneventful | Polyhydramnios | Polyhydramnios |
Routine pulse oximetry screening after birth | Negative | Positive | Positive | Positive | Negative | Negative | Negative | Negative | Negative |
Cardiovascular malformations by Echo | |||||||||
PVS (HP:0001642) | Positive | – | – | – | – | – | – | – | – |
ASD (HP:0001684) | Positive | Positive | Positive | Positive | Positive | Positive | – | Positive | Positive |
HCM (HP:0001639) | Positive | – | Positive | Positive | – | – | – | – | – |
Other cardiac anomalies | Mitral valve defects (HP:0001633) | PDA (HP:0001643) | tricuspid valve defects (HP:0001702) | PDA (HP:0001643)、Mitral valve defects(HP:0001633) | VSD (HP:0001629) | PDA (HP:0001643) | |||
Characteristic facies | |||||||||
Hypertelorism (HP:0000316) | – | – | – | Positive | – | – | – | – | – |
Low-set ears (HP:0000369) | – | – | – | Positive | – | – | – | – | – |
Other facial anomalies | High-arched palate (HP:0000218)、 Microphthalmia (HP:0000568)、Webbed neck (HP:0000465) | Sparse and curly hair (HP:0002212)、Long eyelashes (HP:0000527) | Micrognathia (HP:0000347)、Webbed neck (HP:0000465) | ||||||
Clinical features | |||||||||
Tachypnea (HP:0002790) | Positive | Positive | Positive | Positive | – | – | – | Positive | Positive |
Cyanosis (HP:0000961) | Positive | Positive | – | Positive | – | – | – | – | |
Feeding difficulties (HP:0008872) | – | Positive | – | Positive | – | Positive | – | – | Positive |
Pleural effusion (HP:0002202) | – | – | – | Positive | – | – | – | – | Positive |
Bleeding tendency (HP:0001892) | Positive | – | – | Positive | – | – | – | Positive | – |
Cryptorchidism(HP:0000028) | – | Positive | – | Positive | – | – | – | – | – |
Pectus excavatum (HP:0000767) | – | Positive | – | – | – | – | – | – | – |
Other extracardiac anomalies | Abnormal renal pelvis morphology (HP:0010944) | Laryngomalacia (HP:0001601)、 Abnormal renal pelvis morphology (HP:0010944) | Abnormal renal pelvis morphology (HP:0010944) | Erythema (HP:0031286) | Arteriovenous malformation of the spine (HP:0002390) | Arteriovenous malformation of the brain (HP:108010) | Laryngomalacia (HP:0001601)、Abnormal renal pelvis morphology (HP:0010944) | ||
Surgery or not | No | No | Yes | No | No | No | Yes | No | No |
180 days of age outcome | ID at 20 weeks, 6 days | ID at 4 weeks, 3 days | Survival | ID at 10 weeks, 4 days | Survival | Survival | Survival | Survival | Survival |