In addition, we determined the TSCS scores for seven subjects with loss-of-function SHOX point mutations, six with SHOX haploinsufficiency (dyschondrosteosis) and one with complete absence of SHOX (an 84-year old woman with Langer mesomelic dysplasia due to compound heterozygosity) [31]. The gene discussed is SHOX; the disease is Leri-Weill dyschondrosteosis.