Table 1 Phenotype spectrum of 12 neonatal patients
From: Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants
Item | Positive observed | Bergman 2011 [10] | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sex | 75% (9/12 male) | / | M | M | M | F | M | M | M | F | M | M | F | M |
GA (week) | 37.54 (average) | / | 41 + 2 | 36 + 3 | NA | 38 + 3 | 37 + 2 | 35 + 6 | 39 | 40 | 36 + 2 | 34 + 3 | 38 | 39 + 4 |
Weight (Kg) | 2.77 (average) | / | 3.2 | 3.45 | NA | 2.2 | 2.76 | 2.2 | 3.75 | 2.8 | 2.4 | 1.85 | 2.65 | 3.2 |
Age of onset | 1.83 (average) | / | IAB | 9d | 10d | IAB | IAB | 3d | IAB | IAB | IAB | IAB | IAB | IAB |
Head and Neck | 83% (10/12) | / | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Abnormality of the external ear | 50% (6/12) | 97.0% (224/231) | N | yes | yes | N | N | yes, L | yes | N | N | N | yes, R | yes, B |
Abnormal location of ears | 17% (2/12) | / | N | N | N | N | N | N | N | N | yes | N | N | yes |
Colobomas | 17% (2/12) | 80.8% (189/234) | N | N | N | N | N | N | N | yes | N | yes | N | N |
Hypertelorism | 8% (1/12) | / | N | N | N | N | N | N | yes | N | N | N | N | N |
Asymmetric crying face | 33% (4/12) | / | N | N | yes | N | N | N | yes | yes | N | N | yes | N |
Flat nasal bridge | 8% (1/12) | / | N | N | N | N | N | N | yes | N | N | N | N | N |
Micrognathia | 17% (2/12) | / | N | N | N | N | N | N | N | N | N | N | yes | yes |
Short neck | 8% (1/12) | / | N | N | N | N | N | N | N | N | N | yes | N | N |
Head circumference | 33.45 (average) | / | 33 | 36 | NA | 33 | 32 | NA | 35 | 35 | 33 | 30.5 | 33 | 34 |
SD (standard deviation) | / | / | (−1.37 SD) | (−0.60 SD) | (−1.22 SD) | (−1.71 SD) | (−0.40 SD) | (−1.56 SD) | (−1.27 SD) | (−2.47 SD) | (−1.22 SD) | (−1.59 SD) | ||
Cardiovascular system | 58% (7/12) | 75.8% (191/252) | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
PDA | 100% (12/12) | / | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes |
Atrial septal defect | 33% (4/12) | / | N | yes | N | N | N | N | N | yes | N | yes | yes | N |
Ventricular septal defect | 8% (1/12) | / | N | N | N | N | N | N | N | N | yes | N | N | N |
Pulmonary valve stenosis | 8% (1/12) | / | N | N | N | N | N | N | N | N | yes | N | N | N |
Right aortic arch | 17% (2/12) | / | yes | N | N | N | N | yes | N | N | N | N | N | N |
Coarctation of aorta | 17% (2/12) | / | N | N | N | N | N | N | N | yes | N | yes | N | N |
Respiratory system | 17% (2/12) | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Tracheal stenosis | 8% (1/12) | / | N | N | N | N | N | N | N | yes | N | N | N | N |
Laryngeal obstruction | 8% (1/12) | / | N | N | N | N | N | N | N | N | N | N | yes (II) | N |
Hypoplasia of Laryngeal cartilage | 8% (1/12) | / | N | N | N | N | N | N | N | yes | N | N | N | N |
Digestive system | 67% (8/12) | / | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Tracheo-oesophageal malformation | 35% (3/12) | 28.8% (42/146) | yes | N | N | yes | N | N | yes | N | N | N | N | N |
Hiatal hernia | 8% (1/12) | / | N | N | N | N | N | N | N | N | N | N | N | yes |
Feeding difficulty | 58% (7/12) | / | yes | yes | N | yes | N | yes | yes | yes | N | N | yes | N |
Urogenital system | 67% (6/9) | 81.4% (118/145) | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Cryptorchidism | 44% (4/9) | / | N | N | N | / | N | yes, R | yes | / | yes, B | yes, B | / | N |
Micropenis | 33% (3/9) | / | N | N | N | / | N | N | yes | / | N | yes | / | yes |
Hypospadias | 11% (1/9) | / | N | N | N | / | N | N | yes | / | N | N | / | N |
Small scrotum | 11% (1/9) | / | N | N | N | / | yes, B | N | N | / | N | N | / | N |
Limbs | 17% (2/12) | / | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Polydactyly | 8% (1/12) | / | N | yes, LH | N | N | N | N | N | N | N | N | N | N |
Syndactyly | 8% (1/12) | / | N | N | N | N | N | N | N | yes, LF, 4–5 | N | N | N | N |
Immudeficiency | 8% (1/12) | / | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | yes |
Diagnosis | 75% (9/12) | / | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Bergmann | 67% (8/12) | / | N | yes | N | N | N | yes | yes | yes | yes | yes | yes | yes |
Blake | 67% (8/12) | / | N | yes | yes | N | N | yes | yes | yes | N | yes | yes | yes |
Verlos | 0 | / | N | N | N | N | N | N | N | N | N | N | N | N |
Hale | 42% (5/12) | / | N | yes | yes | N | N | N | yes | yes | N | N | yes | N |
Death | 33% (4/12) | / | N | N | yes | N | N | N | yes | yes | N | yes | N | N |