Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome
| Autor: | David Cruz, Mariana Rives, María Villanueva, Norma Balderrabano-Saucedo, Arodi Farrera, Patricia G. Medina-Bravo, Elizabeth Hernández-Carbajal, Javier Granados-Riveron, Alfredo Vizcaíno, Rocío Sánchez-Urbina |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
lcsh:Specialties of internal medicine Ontogeny 22q11.2 Physiology 030105 genetics & heredity Marfan Syndrome 03 medical and health sciences Craniosynostoses lcsh:RC581-951 DiGeorge Syndrome Facial features Medicine Humans Deletion syndrome Caucasian population Child General Dentistry Allometry business.industry Research Control subjects Phenotype 030104 developmental biology Mild symptoms Otorhinolaryngology Biological Variation Population Child Preschool Face Neurology (clinical) business Chromosome 22 |
| Zdroj: | Head & Face Medicine Head & Face Medicine, Vol 15, Iss 1, Pp 1-12 (2019) |
| ISSN: | 1746-160X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
| Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |