Table 1.
Clinical Details of Patients with 19p13.1 Monosomy and c.568C>T NFI-X Mutation
| Patient A | Patient B | Patient C | |
|---|---|---|---|
| NFIX deletion/mutation | del 19p13.3 | del 19p13.3 | c.568C>T |
| Age at the last examination (yr) | 14 | 10 | 27 |
| Sex | M | M | F |
| Age mother/father (yr) | 31/33 | 25/30 | 31/31 |
| Ethnic origin | French | French | French |
| Prenatal growth | |||
| Birth weight (g) (centile) | 4500 (>95) | 3110 (10–50) | 3600 (50–90) |
| Birth height (cm) (centile) | 53 (95) | 49 (50) | 52 (95) |
| OFC (cm) (centile) | 38 (>95) | 33.5 (10) | 37.5 (>95) |
| Feeding problems in neonatal period | + | + | |
| Postnatal growth | |||
| Height > P98 | + | + | + |
| OFC > P98 | + | + | + |
| Height-weight ratio < P25 | + | + | |
| Developmental characteristics | |||
| Mental retardation | + | + | + |
| Speech delay | + | + | + |
| Autistic traits | + | + | + |
| Behavioral anomalies | + | + | + |
| Motor retardation | + | ||
| Hypotonia | + | + | |
| Brain MRI | |||
| Ventricular dilatation/hypoplasia corpus callosum | + | ||
| Ventricular dilatation | + | ||
| Craniofacial features | |||
| Long/narrow face | + | + | + |
| High forehead | + | + | + |
| Down-slanting palpebral fissures | + | + | |
| Small mouth | + | + | |
| Everted lower lip | + | + | |
| Prognathia | + | ||
| Eyes | |||
| Hypermotropia | + | + | |
| Strabismus | + | + | |
| Nystagmus | + | ||
| Astigmatism | + | ||
| Musculo-skeletal abnormalities | |||
| Pectus excavatum | + | + | |
| Scoliosis | + | + | |
| Advanced bone age | + | + | + |
| Abdominal wall hypotonia | + | + | |
| Coxa valga | + | + | |
| Hand/foot abnormalities | |||
| Long fingers | + | + | |
| Other abnormalities | |||
| Malformed nails | + | ||
| Premature eruption of teeth | + | ||
| Generalized livedo | + | ||