Total number of patients | 5 | 21 | |
Sex ratio (male:female) | 2:3 | 15:6 | 0.21 |
Age range (years) | 9.8 (6.5–17.1) | 7.5 (3.0–21.4) | 0.35 |
Growth and maturation |
Birth length (SDS) | 1.5 (1.4) (n=3) | 0.7 (1.0) (n=19) | 0.25 |
Birth weight (SDS) | 1.4 (0.8) (n=5) | 0.6 (1.0) (n=21) | 0.14 |
Birth OFC (SDS) | 2.1 (0.8) (n=3) | 0.9 (1.2) (n=20) | 0.10 |
Gestational age (week) | 40 (38–41) (n=5) | 40 (36–42) (n=18) | 0.36 |
Overgrowth (<6 years) | 5/5 | 18/21 | 0.90 |
Peak height (SDS) | 3.3 (0.5) (n=5) | 2.2 (1.2) (n=21) | 0.007 |
Overgrowth (>6 years) | 2/5 | 2/11 | 0.37 |
Peak height (SDS) | 1.9 (1.3) (n=5) | 0.9 (1.2) (n=11) | 0.14 |
Advanced bone age (=6 years) | 1/1 | 10/14 | 0.73 |
Premature eruption of teeth | 2/3 | 15/17 | 0.95 |
Performance |
Mental retardation (=6 years) | 3/3 | 9/9 | - |
IQ/DQ | 60±10 (n=3) | 45±20 (n=9) | 0.26 |
Mental retardation (>6 years) | 3/4 | 5/5 | 0.91 |
IQ/DQ | 78±12 (n=4) | 57±12 (n=5) | 0.03 |
Hypotonia | 3/5 | 7/21 | 0.58 |
Hyperreflexia | 1/3 | 6/18 | 0.75 |
Minor anomaly |
Craniofacial features | 5/5 | 21/21 | - |
Coarse appearance | (5/5) | (20/20) | (-) |
Large head | (5/5) | (18/20) | (0.63) |
Prominent forehead | (5/5) | (20/20) | (-) |
Receding frontal hair line | (3/4) | (13/17) | (0.77) |
Hypertelorism | (4/4) | (18/21) | (0.58) |
Downward slanting fissures | (4/4) | (17/21) | (0.47) |
Large ears | (4/5) | (16/20) | (0.75) |
High arched palate | (3/3) | (17/18) | (0.86) |
Other features | 5/5 | 20/21 | 0.81 |
Scoliosis | (1/5) | (5/21) | (0.68) |
Large hands and feet | (5/5) | (20/21) | (0.81) |
Major anomaly |
Brain anomaly | 2/5 | 12/19 | 0.33 |
Large ventricle/brain atrophy | (2/5) | (5/19) | (0.46) |
Agenesis/hypoplasia of CC | (0/5) | (7/19) | (0.15) |
Cardiovascular anomaly | 0/5 | 12/21 | 0.03 |
PDA | (0/5) | (4/21) | (0.40) |
ASD | (0/5) | (2/21) | (0.65) |
PDA and ASD | (0/5) | (6/21) | (0.24) |
Urinary anomaly | 0/5 | 7/13 | 0.05 |
Hypoplastic kidney | (0/5) | (1/13) | (0.72) |
Hydronephrosis | (0/5) | (1/13) | (0.72) |
Hydronephrosis and VUR | (0/0) | (4/5) | (0.23) |
VUR | (0/0) | (1/5) | (0.72) |
Others |
Neonatal asphyxia | 1/5 | 3/21 | 0.60 |
Neonatal hypoglycaemia | 1/5 | 4/21 | 0.69 |
Neonatal jaundice | 0/5 | 11/21 | 0.04 |
Recurrent afebrile convulsions | 0/5 | 13/21 | 0.02 |
Malignancy | 0/5 | 1/21 | 0.81 |