Table 1 .
Clinical and genetics data | Child 1 | Child 2 | Child 3 | Child 4 | Child 5 | Mother | Child 1 | Child 1 | Child 1 | Child 2 | Mother |
|---|---|---|---|---|---|---|---|---|---|---|---|
Romanian family [3] | Sri-Lanka [13] | Italy [14] | Russia (Yugra region) | ||||||||
Age at diagnosis, years | 13 | 8.2 | 5.5 | 2.10 | 3.0 | 33 | 4 | 2.5 | 5 | 1.7 | 28 |
Sex | F | F | F | M | M | F | F | M | M | F | F |
Insufficient feeding, BMI z-score, SD | No 0.2 | Yes – 2.4 | Yes – 2.8 | Yes – 3.7 | No 0.12 | No 0.5 | No | No | Yes 1.1 | No 0.7 | No |
Face features | |||||||||||
Micrognathia | + | + | + | + | + | + | – | – | – | – | – |
Downslanting palpebral fissures | – | – | + | + | + | – | + | + | + | + | + |
Broad forehead | – | + | + | + | + | – | + | + | + | + | + |
Pointed nose tip | + | + | + | + | + | + | + | – | + | + | + |
Triangular face | – | + | + | + | + | – | + | + | + | + | + |
Prominent mandibular angle | – | – | – | + | + | – | + | – | – | – | – |
Oval face and prominent chin | + | + | + | + | + | + | – | + | + | + | – |
Microcephaly | + | + | + | + | + | + | – | – | + | + | – |
Hypertelorism | + | + | + | + | + | – | + | – | + | + | + |
Ears posteriorly rotated/ conchae anomaly | + | + | + | – | – | + | + | + | + | + | + |
Asymmetric smile | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | – | – | – |
Neurodevelopment | |||||||||||
Hypotonia (mild to moderate) | – | – | – | + | + | – | + | – | + | + | – |
Oropharyngeal dysphagia | + | + | – | – | – | + | – | – | – | – | – |
Moderate high-frequency neurosensory hearing loss | + | + | + | – | – | + | – | – | – | – | – |
Developmental delay | |||||||||||
Cognitive impairment | + | + | + | + | – | + | + | + | + | + | + |
Impairment of speech expression and perception, articlulation difficulties, disordered intonation, prosody | + | + | + | + | – | + | + | + | + | + | + |
Behavioral difficulties (attention deficit, withdrawal, hyperactivity, anxiety, ADHD) | + | – | – | – | – | – | + | + | + | + | + |
Short stature | – | – | + | + | – | – | – | – | – | – | – |
Hypoglycemia | – | – | – | + | – | – | – | – | – | – | – |
Musculoskeletal features | |||||||||||
Long fingers and toes | – | – | – | – | – | – | 5th finger clino-dactyly | – | – | – | – |