SHOX and Leri-Weill dyschondrosteosis: Although no other patients were exhibiting the LWD phenotype in her family, we detected the gene dosage of CRLF2 and CNE9 (the SHOX gene enhancer in the deletion region of Xp22.33), AIFM1 and FRMD7 (deletion region of Xq25q26.3) of the female proband and her parents by qPCR (Figure 3).