Abstract
A cohort study on the growth of 19 Argentinean children, aged 0 to 18 years, and 11
of their first-degree relatives with alterations in the SHOX gene or its regulatory regions is reported. Children are born shorter and experience
a growth delay during childhood with a stunted pubertal growth spurt. Body disproportion,
with a sitting height/height ratio above +2 standard deviation score (SDS), was already
present as early as 2 years old. Hand length was normal. Shortening of the radius,
with a length below –1.9 SDS, was the earliest and most frequent radiological sign
detected as early as 45 days old. We found a previously unreported mutation in a family
with a highly variable phenotype, the boy had a severe phenotype with a milder presentation
in other affected members of the family. We conclude that body disproportion and a
shorter radius length on X-ray are useful tools for selecting children to undergo
SHOX molecular studies.
Keywords
SHOX gene - Leri–Weill dyschondrosteosis - body disproportion
