Paternal age at birth | 37 | 38 | 42 | 32 | 23 | 32 | 33 | 40 | 28 | 38 | 43 | 35* |
Sex | M | M | M | M | M | M | M | M | M | M | M | 11 M |
General
|
Birth weight (g) | 2100 | 2900 | 3200 | 2200 | 2100 | 2870 | 2110 | 2100 | 2130 | 2.350 | 2.500 | 2.4* |
Birth height | ? | ? | ? | ? | ? | ? | ? | 44.5 | 42 | 44 | 47 | 44.4* |
Height in SD | −5.5 | −4.5 | −4.5 | −6 | −3 | <−2 | −4 | −2 | −3.6 | −2 | −2 | −2/–6 |
(adult height) | (140 cm) | (146 cm) | (146 cm) | (139 cm) | | | | (154 cm) | | | | |
Age at last observation | 24 | 18 | 16 | 18 | 6 | 13 | 14 | 20 | 14 | 5 | 10 | 14.3* |
Craniofacial features
|
OFC (SD) | −1 | −1.5 | ? | −1.5 | M | +1.5 | +1 | −1 | +0.5 | −1 | 0 | −1/+1.5 |
Ptosis | ? | ? | ? | ? | − | − | ? | − | + | + | slight | 3/6 |
Short palpebral fissures | + | + | + | + | + | + | + | + | + | + | + | 11/11 |
Midface hypoplasia | + | + | + | − | + | + | ? | + | + | + | + | 9/10 |
Short philtrum | + | + | + | + | + | + | + | + | + | + | + | 11/11 |
Narrow mouth | + | + | + | + | + | + | + | + | + | + | + | 11/11 |
Thin upper lip | + | + | + | + | + | + | + | + | + | + | + | 11/11 |
Prognathism | + | + | + | ? | + | ? | + | + | + | + | + | 9/9 |
Cleft lip | + | − | − | − | − | − | − | − | − | − | − | 1/11 |
Small ears | ? | ? | ? | ? | + | ? | ? | + | + | + | + | 5/5 |
Skeletal anomalies
|
Brachydactyly | + | + | + | + | + | + | + | + | + | + | + | 11/11 |
Thick calvaria | + | + | + | + | + | + | + | − | + | ? | + | 9/11 |
Joint limitations | + | + | + | + | + | + | + | + | + | + | + | 11/11 |
Broad ribs | + | + | + | + | + | + | ? | − | + | ? | + | 8/9 |
Narrow pelvis | + | + | + | + | + | + | + | + | + | ? | + | 10/10 |
Thick femoral necks | − | − | + | + | − | + | ? | − | ? | ? | + | 4/8 |
Large epiphyses | ? | ? | ? | ? | ? | ? | ? | + | + | ? | + | 3/3 |
Mild platyspondyly | + | + | − | + | + | + | ? | + (regress) | + | + | + | 9/10 |
Large pedicles | + | + | + | ? | ? | + | + | − | + | + | + | 8/9 |
Neuromuscular
|
IQ | 45 | 35–50 | 75 | Low | Low | Low | Low | Normal | Low | 50–60 | 55–60 | |
Behaviour | , | ? | , | ? | ? | ? | autistic | Difficult relationships | ? | Repetitive/ stereotypic behavior, Hyperactivity | Hyperactivity encopresis | |
Muscular hypertrophy | + | + | + | + | + | + | + | + | + | + | + | 11/11 |
Muscle histology | ? | ? | Normal | Minor changes | ? | Normal | Minor changes | Normal | ? | ? | ? | |
EMG/muscle ultrasound | ? | ? | EMG myopathic | Normal | ? | Myopathic US changes | EMG neurogenic | EMGnNormal | ? | ? | ? | |
Miscellaneous
|
Very thick skin | ? | ? | + | + | ? | ? | + | + | + | + | + | 7/7 |
Deafness | + | + | + | −100dB | − | + | Mild | + | + | + | − | 9/11 |
Abnormal inner ear | ? | ? | ? | ? | ? | Ossicular fixation | ? | + | ? | ? | ? | |
Ophthalmological anomalies | Hyperm | Hyperm | Hyperm | ? | ? | Cataract | ? | Hyperm | Hyperm | Hyperm | Cataract | 8/8 |
Heart malformation | + | ASD | − | − | − | PDA, PPS | Left atrium mild dilatation | − | − | − | Aortic and pulmonar valve stenosis | 5/11 |
Kidney malformation | − | − | − | − | − | − | − | − | − | − | Right kidney agenesia | 1/11 |
Hypertension | + | − | + | + | − | ? | − | + | − | − | − | 4/10 |
Inguinal hernia | + | − | − | − | − | − | + | − | − | − | − | 2/11 |
Puberty | ? | ? | Normal | Delayed | ? | ? | ? | Delayed | Precocious | | Precocious | |
Hypospadias | + | − | − | − | − | − | − | − | − | − | − | 1/11 |
Cryptorchidism | + | + | − | ? | − | − | + | + | + | − | − | 5/10 |