Table 3. Summarised description of our patients and published ones.
Our patients | Previous reportsa | Overall | |
---|---|---|---|
Genderb | 11M/4F | 11M/8F | 22M/12F |
Parental originc | 7P/2M | 7P/1M | 14P/3M |
Perinatal data | |||
Hypotonia | 3/11 | 12/20 | 48% |
Feeding difficulties | 4/13 | 4/20 | 24% |
Clinical features | |||
Development delay | 13/13 | 16/17 | 97% |
Learning disabilities | 14/14 | 15/16 | 97% |
Behavioural problems | 10/12 | 7/16 | 61% |
Sleep disorders | 4/12 | 1/19 | 16% |
Hyperphagia | 5/14 | 6/8 | 50% |
Obesity | 10/14 | 10/17 | 65% |
Craniofacial features | |||
Rounded face/full cheeks | 11/12 | 6/19 | 55% |
Skull features | 7/15 | 11/19 | 53% |
Philtrum features | 6/15 | 6/19 | 35% |
Bulbous nose | 5/15 | 2/19 | 21% |
Abnormal extremities | 10/14 | 10/17 | 65% |
Hands | 6/14 | 7/17 | 42% |
Feet | 4/14 | 5/17 | 29% |
Genital anomalies | 2/15 | 2/20 | 11% |
Abnormal brain MRI | 1/7 | 8/10 | 53% |
Vision anomalies | 8/14 | 7/13 | 56% |