Aim 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. Conclusion 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.
Introduction: Isolated or congenital hemihypertrophy is a rare disorder characterized by asymmetric overgrowth of one side of the body. This article describes the protocol and preliminary results of a lateral body asymmetry (hemihypertrophy) screening procedure performed in healthy adolescents in a multicenter study. The reported incidence of hemihypertrophy varies between different publications and standardized protocols are needed to improve research in this area.Methods: Our screening program is taking place in Australia, Israel, Mexico, Ukraine and USA. Procedure includes two steps: (1) “three measurements – three questions” screening, or assessment of face, palms, and shins; (2) in-depth assessment of selected cases in order to exclude localized, lesional, and syndrome-related cases as well as body asymmetry within normative range and to select suspected cases of isolated hemihypertrophy. This step includes measurements of various anatomical regions and a detailed questionnaire.Results: At this stage, the screening procedure is completed and the selected participants are advised to refer to medical institutions for further clinical and genetic follow up to exclude possible tumors and other accompanying disorders.Conclusion: We present an easy-to-use selection tool to identify children with suspected IH, which results in the selection of the risk group that may benefit from referral to a pediatrician and a clinical geneticist.
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