Skip to main content

Table 1 Clinical features of our patients

From: Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

Patient 1 2 3 4 5 6 7 8 9 10
Sex M F F M M M F M M F
Age 1Y 15 M 10Y 11 M 10Y 5 M 9Y 10 M 4Y 14 M
Height(cm) 70 67 114.4 67 100.2 57 104.5 60.3 80 53
Karyotype 46,XY 46,XX 46,XX 46,XY 46,XY 46,XY 46,XX 46,XY 46,XY 46,XX
Congenital heart defect
PVS + +
ASD + + + + +
PDA  
VSD +
Mitral or tricuspid valve defects +
Hypertrophic cardiomyopathy (HCM) +
Short stature (<3rd centile) + + + + + + +
Short webbed neck +
Chest deformity + + +
Characteristic facies
Low-set posteriorly rotated ears with fleshy helices + + + + + + + + + +
Downslanting palpebral fissures + + + + + +
Palpebral ptosis + + + + +
Wide-spaced eyes + + + + + + + +
Epicanthal folds   
Deeply grooved philtrum + + + +
High wide peaks of the vermilion + + + + +
Low posterior hairline +   +
Thick curly hair or thin sparse hair + + + +
Micrognathia   + + + +
Macrocephaly +
Malocclusion +
Excess nuchal skin + +
Others
Developmental delay or cognitive deficit + + + + + + + + +
Lymphatic dysplasias
Feeding difficulties + + + + +
Renal anomaly
Increased bleeding tendency
  1. ASD atrial septal defect, VSD ventricular septal defect, HCM hypertrophic cardiomyopathy, PDA patent ductus arteriosus, PVS pulmonary valve stenosis
  2. +present, −not present