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Head & Face Medicine
Published in: Head & Face Medicine 1/2019

Open Access 01-12-2019 | Research

Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome

Authors: Arodi Farrera, María Villanueva, Alfredo Vizcaíno, Patricia Medina-Bravo, Norma Balderrábano-Saucedo, Mariana Rives, David Cruz, Elizabeth Hernández-Carbajal, Javier Granados-Riveron, Rocío Sánchez-Urbina

Published in: Head & Face Medicine | Issue 1/2019

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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.
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Metadata
Title
Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome
Authors
Arodi Farrera
María Villanueva
Alfredo Vizcaíno
Patricia Medina-Bravo
Norma Balderrábano-Saucedo
Mariana Rives
David Cruz
Elizabeth Hernández-Carbajal
Javier Granados-Riveron
Rocío Sánchez-Urbina
Publication date
01-12-2019
Publisher
BioMed Central
Published in
Head & Face Medicine / Issue 1/2019
Electronic ISSN: 1746-160X
DOI
https://doi.org/10.1186/s13005-019-0213-9

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