|
Jaeken et al8
|
Ramaekers et al11
|
This case
|
Ethnic origin | Belgian | Iranian | French |
Consanguineous parents |
Birth weight | 3250 g | ? | 3050 g |
Birth length | 50 cm | 48 cm |
Head circumference | 35 cm | 35 cm |
Presenting symptom | Hypotonia at birth | Developmental delay | Feeding difficulties |
Diarrhoea at 3 months |
Method of diagnosis | Investigation of the coagulation | ? | Investigation of the coagulation |
Age at diagnosis | 9.5 y | 3 y | 11 y |
Neurological symptoms |
Developmental delay | Severe | Severe | Severe |
| A few steps without support | Generalised hypotonia | No speech at 11 |
| Monotonous sounds | | Unstable gait |
Epilepsy | Yes, at 6 | Yes | No |
Abnormal behaviour | Stereotypic | Hand washing movement | No |
Neuropathy | No | No | No |
Cerebellar hypoplasia | No | No | No |
Failure to thrive | + After 2 y | + | + |
L 3rd centile | L 3rd–10th centile | L<−4 SD |
W 3rd centile | W 3rd–10th centile | W<−2.5 SD |
Gastrointestinal problems | Volvulus of the stomach | − | Chronic diarrhoea |
Dysmorphic features | | Coarse face | |
Nose | Hooked | − | Beaked |
Lips | Thin | − | Thin upper lip, |
| | | Everted lower lip |
Ears | Large, dysplastic | Large, low set | Large |
Gums | Hypertrophy | − | Hypertrophy |
Teeth | Large | − | Large |
Mandible | Prognathism | − | − |
Neck | Short | − | Short |
Thorax | − | − | Pectus excavatum |
| − | Widely spaced nipples | Widely spaced nipples |
| Kyphoscoliosis | − | Kyphosis |
Cardiac defect | Ventricular septal defect | Ventricular septal defect | − |
ERG | ? | ? | Altered |
Mutation | A1467G/A1467G | C1551T/C1551T | A952G/T1017A |