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• W2995626287 abstract "Abstract Background 22q11.2 deletion syndrome is a medical condition that results from genomic loss at chromosome 22. Affected patients exhibit large variability that ranges from a severe condition to mild symptoms. In addition, the spectrum of clinical features differs among populations and even within family members. The facial features related to this syndrome are not an exception, and although part of its variation arises through development, few studies address this topic in order to understand the intra and inter-population heterogeneities. Here, we analyze the ontogenetic dynamics of facial morphology of Mexican patients with del22q11.2 syndrome. Methods Frontal facial photographs of 37 patients (mean age = 7.65 ± 4.21 SE) with del22q11.2DS and 200 control subjects (mean age = 7.69 ± 4.26 SE) were analyzed using geometric morphometric methods. Overall mean shape and size differences between patients and controls were analyzed, as well as differences in ontogenetic trajectories (i.e. development, growth, and allometry). Results We found that Mexican patients show typical traits that have been reported for the Caucasian population. Additionally, there were significant differences between groups in the facial shape and size when all the ontogenetic stages were considered together and, along ontogeny. The developmental and allometric trajectories of patients and controls were similar, but they differed in allometric scaling. Finally, patients and controls showed different growth trajectories. Conclusion The results suggest that the typical face of patients with del22q11.2DS is established prenatally; nonetheless, the postnatal ontogeny could influence the dysmorphology and its variability through size-related changes." @default.
• W2995626287 created "2019-12-26" @default.
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• W2995626287 date "2019-12-01" @default.
• W2995626287 modified "2023-10-16" @default.
• W2995626287 title "Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome" @default.
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• W2995626287 doi "https://doi.org/10.1186/s13005-019-0213-9" @default.
• W2995626287 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6905036" @default.
• W2995626287 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31829202" @default.
• W2995626287 hasPublicationYear "2019" @default.
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