In conclusion, UMS should be suspected in patients with delayed puberty and midline defects, including pituitary hypoplasia, in the presence of mild cues for TBX3 mutation, even in the absence of limb malformations.
Mutations in TBX3 cause ulnar-mammary syndrome (UMS), which is distinguished by upper limb malformations affecting the ulnar ray, apocrine, and mammary gland hypoplasia, and genital defects.
Combining the TBX3 mutation data in the literature with this novel mutation we find an association between mutations that disrupt the DNA-binding domain and a higher frequency of severe upper limb malformations and teeth defects.