Findings | Previously reported cases (n=12)1-150 | Present case | All cases (%) |
---|---|---|---|
Premature puberty | 7/71-151 | Too young | 100 |
Developmental delay | 8/101-152 | + | 82 |
Hypotonia/joint laxity | 9/12 | + | 77 |
Short stature | 9/12 | − | 69 |
Small hands | 9/12 | − | 69 |
Intrauterine growth retardation | 7/12 | − | 54 |
Macrocephaly/hydrocephalus | 4/12 | + | 38 |
↵1-150 Refs 2–7, 10–15. The case reported by Papenhausenet al 9 was not included because UPD(14)mat was not proven. The case reported by Sirchiaet al 8 was excluded because clinical evaluation was not possible.
↵1-151 Five cases were too young to evaluate.
↵1-152 Two cases were too young to evaluate.