Table 1 Clinical features of our patients
Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 |
|---|---|---|---|---|---|---|---|---|---|---|
Sex | M | F | F | M | M | M | F | M | M | F |
Age | 1Y | 15Â M | 10Y | 11Â M | 10Y | 5Â M | 9Y | 10Â M | 4Y | 14Â 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 | – | – | – | – | – | – | – | – | – | – |