目的:报道的孤立性半增生(IH)的发病率范围很广(从1:13,000到1:86,000活产),需要进一步澄清。我们假设对新生儿中IH的出生患病率的调查可能会忽略迟发性病例而低估IH的发生率。
方法:前瞻性国际多中心研究使用两步选择工具对15-18岁的志愿者进行匿名调查。第一步是“三个测量-三个问题”筛选,或“脸-手掌-小腿调查”。随后的步骤是对选定的病例进行深入评估,以排除局部病例,病变和综合征相关病例以及规范范围内的身体不对称,并选择IH的疑似病例。该步骤包括各种解剖区域的测量和随后的问卷。建议在风险组中选择的参与者参考医疗机构进行临床,遗传和仪器调查。
结果:在选定的6000名参与者中(男性,M3452,女性,F2548),229(3.82%)被选择进行详细调查,57(0.95%)被分配到风险组。实际上,其中只有36个被转诊到医疗机构,在两个案例中,IH的诊断得到了确认。
结论:我们的调查显示,青春期IH的患病率约为1:3000。虽然IH是一种遗传性遗传病,它可能不会在新生儿和婴儿中检测到,如果对年龄较大的儿童进行筛查,可以估计该疾病的真实患病率。
OBJECTIVE: The reported incidence of isolated hemihyperplasia (IH) has a very wide range (from 1:13,000 to 1:86,000 live births) and further clarification is needed. We hypothesized that a survey of the birth prevalence of IH among newborn infants may underestimate the incidence of IH by overlooking late-onset cases.
METHODS: The prospective international multicenter
study utilized the two-steps selection tool for an anonymous survey of volunteers of 15-18 years old. The initial step was \"three measurements-three questions\" screening, or \"face-palms-calves survey\". The subsequent step was an in-depth assessment of selected cases to exclude localized, lesional and syndrome-related cases as well as body asymmetry within normative range and to select suspected cases of IH. This step included measurements of various anatomical regions and a subsequent questionnaire. The participants that were selected in a risk group were advised to refer to medical institutions for clinical, genetic and instrumental investigation.
RESULTS: Out of 6000 of selected participants (male, M 3452, female, F 2548), 229 (3.82%) were selected for detailed investigation and 57 (0.95%) were assigned to the risk group. Only 36 of them were actually referred to medical institutions and in two cases the diagnosis of IH was confirmed.
CONCLUSIONS: Our survey indicated the prevalence of IH at the age of adolescence as approximately 1:3000. While IH is a hereditary genetic disorder, it may not be detected in newborns and infants and the true prevalence of the disease can be estimated if older age children are screened.