Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.
Pediatric Orthopedic and Traumatology Unit, San Raffaele Hospital, Milan, Italy.
J Pediatr. 2021 Jul;234:123-127. doi: 10.1016/j.jpeds.2021.01.020. Epub 2021 Jan 16.
To provide information on evolution over time of leg length discrepancy in patients with syndromic and isolated lateralized overgrowth.
This retrospective study investigates leg length discrepancy longitudinally in 105 patients with lateralized overgrowth either isolated (n = 37) or associated with Beckwith-Wiedemann spectrum (n = 56) or PIK3CA-related overgrowth spectrum (n = 12). Discrepancy was measured by standard methods and categorized as minor, mild, severe, and critical, based on the thresholds of 1, 2 and 5, respectively.
The period of observation from diagnosis was 1.7 ± 2.6 to 9.0 ± 6.0 years. Leg length discrepancy was 11.0 ± 7.2 mm at diagnosis and 17.1 ± 14.4 mm at last visit. Both final leg length discrepancy and change over time were correlated with discrepancy at diagnosis (r = 0.45, P < .001 and r = 0.05, P = .019, respectively). Among minor leg length discrepancy at diagnosis, 47.5% remained minor, 40.0% become mild, and 12.5% severe. Among patients with discrepancy classified as severe at diagnosis, 84.6% remained severe and 15.4% evolved to critical. The isolated lateralized overgrowth group showed a milder evolution over time compared with Beckwith-Wiedemann spectrum and PIK3CA-related overgrowth spectrum groups. Among patients with Beckwith-Wiedemann, those with paternal chromosome 11 uniparental disomy had more severe leg length discrepancy at diagnosis and evolution over time.
Leg length discrepancy associated with isolated or syndromic lateralized overgrowth tends to worsen with growth and correlates with discrepancy at first observation. Among the genotypic groups, isolated lateralized overgrowth tends to have a milder evolution, whereas Beckwith-Wiedemann spectrum predisposes to a more severe outcome, especially if associated with paternal chromosome 11 uniparental disomy genotype.
提供关于综合征性和孤立性侧偏性过度生长患者下肢长度差异随时间演变的信息。
本回顾性研究纵向调查了 105 例侧偏性过度生长患者的下肢长度差异，这些患者要么孤立存在（n=37），要么与贝克威思-威德曼综合征谱（n=56）或 PI3KCA 相关过度生长谱（n=12）相关。差异通过标准方法测量，并根据阈值 1、2 和 5 分别分为轻度、中度、重度和重度。
从诊断到观察结束的时间为 1.7±2.6 至 9.0±6.0 年。诊断时下肢长度差异为 11.0±7.2mm，最后一次就诊时为 17.1±14.4mm。最终下肢长度差异和随时间的变化均与诊断时的差异相关（r=0.45，P<.001 和 r=0.05，P=.019）。在诊断时下肢长度差异轻度的患者中，47.5%保持轻度，40.0%变为中度，12.5%变为重度。在诊断为严重下肢长度差异的患者中，84.6%保持严重，15.4%进展为严重。孤立性侧偏性过度生长组与贝克威思-威德曼综合征谱和 PI3KCA 相关过度生长谱组相比，随时间的变化更为轻微。在贝克威思-威德曼综合征患者中，那些具有父系染色体 11 单亲二体性的患者在诊断时和随时间的变化中下肢长度差异更为严重。
与孤立性或综合征性侧偏性过度生长相关的下肢长度差异随着生长而趋于恶化，并与首次观察时的差异相关。在基因型组中，孤立性侧偏性过度生长倾向于更轻微的演变，而贝克威思-威德曼综合征谱倾向于更严重的结果，特别是如果与父系染色体 11 单亲二体性基因型相关。
