Patient 1 (CG/96E0600) | Patient 2 (DT/92E1657) | Patient 3 (LF/96E0551) | Patient 4 (NR/97E877) | Patient 5 (AS/94E1416) |
Patient 6 (CL/87E1624) | |||||||
Anthropometric data | ||||||||||||
Birth (gestational weeks) | 39 | 36 | 38 | 40 | 40 | 41 | ||||||
Weight (g) | 2900 (−1.0 SD) | 2120 (−1.2 SD) | 1800 (−3.4 SD) | 2240 (−3.6 SD) | 2200 (−3.7 SD) | 2950 (−1.6 SD) | ||||||
Length (cm) | NR | 46 (−0.4 SD) | 42 (−2.9 SD) | 47 (−3.2 SD) | 45 (−4.3 SD) | 48 (−2.5 SD) | ||||||
OFC (cm) | 31.5 (−2.4 SD) | 30.5 (−1.9 SD) | NR | 31.5 (−2.7 SD) | 32 (−2.3 SD) | 34 (−1.6 SD) | ||||||
Age at examination (y) | 1 | 3 | 3 | 2 | 5 | 12 | ||||||
Weight (g) | 5240 (−3.8 SD) | 9060 (−3.2 SD) | NR | NR | NR | 29 000 (−2 SD) | ||||||
Height (cm) | 64.2 (−4.4 SD) | 89 (−2.7 SD) | 84.5 (−6.7 SD) | 72 (−5 SD) | 91 (−4.4 SD) | 133 (−2.4 SD) | ||||||
OFC (cm) | 41.3 (−3.5 SD) | 46.5 (−2.2 SD) | 44 (−5.0 SD) | 42 (−4.6 SD) | 46 (−3.5 SD) | 54 (mean) | ||||||
Dysmorphic features | ||||||||||||
Hypertelorism | + | + | + | + | + | + | ||||||
Strabismus | + | − | + | + | + | + | ||||||
Broad, large mouth | − | + | − | − | + | + | ||||||
Downturned corners of mouth | + | + | + | + | + | + | ||||||
Micrognathia | + | + | + | + | + | |||||||
Cleft lip/palate | − | − | + | + | + | − | ||||||
Dysplastic ears | + | + | + | + | + | + | ||||||
Preauricular tag | − | − | + | − | − | − | ||||||
Internal findings | ||||||||||||
Heart defect | − | − | ASD | ASD | − | − | ||||||
Genital anomalies | − | + | NR | − | − | + | ||||||
Neurological development | ||||||||||||
Sitting age (mth) | 13 | 20 | 60 | − | 24 | 36 | ||||||
Walking age (y) | 2 | 3 | 6 | − | 5 | ? | ||||||
Simple words (y) | 2 | − | − | − | − | ? | ||||||
Understanding of speech | ++ | ++ | (+) | − | − | ++ | ||||||
Seizures | − | + | + | + | + | + | ||||||
Additional findings | Oligohydramnios | |||||||||||
Bilateral pneumothorax | ||||||||||||
Flexion contractures of large joints | ||||||||||||
Hypoplasia of corpus callosum | ||||||||||||
Hirschsprung disease |