Table 3
Proposed criteria for referral of congenital limb malformation (CLM) to a clinical geneticist
| Number of cohort matching criterion | Cytogenetic or molecular diagnosis | |
| General criteria | ||
| 1. Family history of CLM* | 51 (25%) | 12 (24%) |
| 2. CLM associated with non-limb malformation | 27 (13%) | 10 (37%) |
| 3. Severe CLM affecting more than one limb | 47 (23%) | 18 (38%) |
| Specific criteria | ||
| 4. Bilateral preaxial polydactyly of feet (GLI3 mutation) | 4 (2%) | 4 (100%) |
| 5. Ring finger duplication of hand (HOXD13 mutation) | 2 (1%) | 2 (100%) |
| 6. Bilateral triphalangeal thumb (ZRS of SHH mutation) | 3 (1.5%) | 3 (100%) |
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*Severe CLM excluded patients with post axial polydactyly, simple (non-bony) syndactyly, isolated clinodactyly, amniotic band sequence, and congenital trigger thumb.
