Table 2

Demographic and phenotypic information on SHOX duplication carriers

IDCurrent ageSexType of clubfootCDC height percentileDuplication size (Kb)De novoAdditional history
5 162 00113.8FLTEV48301.166UnknownAdolescent idiopathic scoliosis
5 310 00114.2MBTEVUnknown277.152Unknown
5 333 00114.2MBTEVUnknown241.258YDevelopmental delay, chr 16p13.11 duplication
7 436 0017.9MBTEV562528.216Y
7 470 0011.9MBTEV4.7847.043YBilateral camptodactyly, great uncle with clubfoot
7 282 0013.0MBTEV3.4659.028N
7 506 0012.4MBTEV8.4235.578NAmniotic band syndrome, bilateral symbrachydactly, sixth nerve palsy
7 482 0012.1FBTEV0.1847.043YTorticollis, chr 2q37.3 deletion, developmental delay
7 096 00116.8MBTEV3.7847.043unknownDevelopmental delay
7 470 00445.3MBTEV671.415unknownGreat uncle of 7 470 001
  • BTEV, bilateral talipes equinovarus; LTEV, left talipes equinovarus.