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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) /             
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)             
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)              
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) /             
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)             
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) /             
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) /             
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
  1. B bilateral, Blank patient without this feature, F female, GA gestational age, IAB immediately after birth, L left, LF left food, LH left hand, M male, N do not have this feature, NA the missing value, PDA patent ductus arteriosus, R right, T term baby