Table 1 Summary of clinical data observed among symptomatic carriers of 17p13.3 triplication (F1.1) or duplication (F2.1& F2.2) resulting in split hand/foot malformations with long bones deficiencies type 3 (SHFLD3)
F1.1 | F2.1 | F2.2 | |
|---|---|---|---|
Sex | M | M | M |
Lower extremities | |||
Tibial aplasia/ hypoplasia | + | + | − |
Distal femoral bifurcation | − | − | − |
Hands | |||
Ectrodactyly | + | − | + (bilateral) |
Monodactyly | − | + (bilateral) | − |
Oligodactyly | − | − | − |
Brachydactyly | − | − | − |
Syndactyly, third and fourth digits | − | − | − |
Camptodactyly, third and fourth digits | − | − | − |
Feet | |||
Clubfoot | + | − | - |
Pes varus | + | + (operated) | nd |
Toe hypoplasia or aplasia | + | + | + |
Absent halluces | − | + | − |