TBX4 and familial clubfoot with or without associated lower limb anomalies: In a family with clubfoot associated with additional developmental anomalies, a 2.15 Mb duplication on chr17 involving the TBX4 gene was detected; while in another family with isolated CTEV, a microduplication of 350kb was identified on the chr17_q23.123.2 encompassing the TBX4 gene and its enhancers.