Familial growth and skeletal features associated with SHOX haploinsufficiency.

  title={Familial growth and skeletal features associated with SHOX haploinsufficiency.},
  author={Craig Frank Munns and Ian A Glass and Sally Flanagan and Mark Hayes and Bryan P Williams and Matthieu Berry and David Vickers and Paul M O'Rourke and E. V. C. Sekhara Rao and Gudrun A Rappold and Valentine J. Hyland and Jennifer A. Batch},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  volume={16 7},
This study was designed to determine the intrafamilial effect of SHOX haploinsufficiency on stature, by comparing the growth and phenotype of 26 SHOX haploinsufficient individuals with 45 relatives and population standards. It confirmed that SHOX haploinsufficiency leads to growth restriction from birth to final height. Compared to unaffected siblings, the SHOX haploinsufficient cohort was 2.14 SDS (3.8 cm) shorter at birth and 2.1 SDS shorter through childhood. At final height females were 2.4… CONTINUE READING

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