Table 1.
| Le et al. [8] | This report | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| F1-II:1 | F2-II:1a | F2-II:2a | F3-II:1 | F4-II:4 | F5-II:2 | F5-II:3 | II-1 | II-2 | |
| Sex | M | M | M | M | M | M | F | M | F |
| Psychomotor development | normal | normal | normal | mild delay | normal | NR | normal | severe delay | mild delay |
| Gelastic seizures | + | + | + | − | − | − | − | + | + |
| Hypothalamic hamartoma | + | + | + | − | − | NR | NR | + | + |
| Microcephaly | − | + | − | − | − | − | − | + | + |
| Dysmorphic facial features | + | + | + | + | − | − | − | + | − |
| Chest and rib abnormalities | − | − | − | + | moderate | − | − | − | − |
| Postaxial polydactyly | + | + | + | + | + | + | + | + | + |
| Syndactyly | − | 5/6 | 2/3 | 5/6 | − | 2/3 | 2/3 | 3/4 | − |
| Cardiac defect | − | − | − | − | + | + | + | − | − |
| Shortening of long bones | − | − | − | + | − | − | − | + | + |
We report two cases (II-1 & II-2) that share the clinical features of hypothalamic hamartoma, gelastic seizures, developmental delay, microcephaly (<3rd centile), post-axial polydactyly and shortening of the long bones. The male proband (II-1) had precocious puberty and hypospadias.
NR not reported.
aPreviously reported [7].