Cho et al. (2010) described a 3-generation Korean family segregating autosomal dominant mesomelic dysplasia and a 2q31.1 duplication (see MOLECULAR GENETICS). A brother and sister and their mother and maternal grandmother all had short stature and distinctively short ... Cho et al. (2010) described a 3-generation Korean family segregating autosomal dominant mesomelic dysplasia and a 2q31.1 duplication (see MOLECULAR GENETICS). A brother and sister and their mother and maternal grandmother all had short stature and distinctively short forearms, although they displayed some clinical variability: the maternal grandmother had relatively mild forearm shortening and less severe short stature, and had normal-looking, well-functioning hands, whereas the mother had complex hand anomalies, including 5 fingers and a hypoplastic triphalangeal thumb on the left hand and 5 fingers without a thumb on the right hand. The mesomelic pattern was not grossly evident in the lower extremities, but radiologic measurements showed relative shortening of the tibia and fibula compared to the femur. Feet and ankles were normal in all affected family members, except for the brother, who was born with right congenital clubfoot. No abnormality was observed in the spine. Cho et al. (2010) noted that the phenotype in this family resembled that of the Kantaputra type of mesomelic dysplasia (MMDK; 156232) in terms of marked radial and ulnar shortening associated with relatively mild tibial or fibular shortening; however, affected members of the Korean family did not have calcaneofibular fusion, carpotarsal synostoses, or tibiofibular synostosis, features that are characteristically seen in MMDK. Ghoumid et al. (2011) reported a father and his 6-year-old daughter with a 2q31.1 duplication who had pendular nystagmus and bilateral cutaneous syndactyly of the third and fourth fingers with normal radiologic findings. Ophthalmologic and neurologic examinations were also normal.