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Table 1 Clinical and laboratory data of the nine neonates with RASopathies

From: RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects

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

  1. Abbreviations: ASD atrial septal defect, VSD ventricular septal defect, HCM hypertrophic cardiomyopathy, PDA patent ductus arteriosus, PVS pulmonary valve stenosis, ID infant death