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Ontogeny Of The Facial Phenotypic Variability In Mexican Patients With 22q11.2 Deletion Syndrome

Arodi Farrera, María Teresa Orzáez Villanueva, Alfredo Vizcaíno, Patricia Medina-Bravo, Norma A. Balderrábano-Saucedo, Mariana Rives, David González Cruz, Elizabeth Hernández-Carbajal, Javier T Granados-Riveron, Rocío Sánchez-Urbina
Published 2019 · Medicine
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Background22q11.2 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.MethodsFrontal 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).ResultsWe 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.ConclusionThe 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.
This paper references
Subtypes in 22q11.2 deletion syndrome associated with behaviour and neurofacial morphology.
Brooke Sinderberry (2013)
R: A language and environment for statistical computing.
R Core Team (2014)
A brief review of shape, form, and allometry in geometric morphometrics, with applications to human facial morphology
Philipp Mitteroecker (2013)
A geometric morphometric study of regional differences in the ontogeny of the modern human facial skeleton.
Una Strand Vioarsdóttir (2002)
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
Andrea Caroline Stachon (2007)
Presenting phenotype in 100 children with the 22q11 deletion syndrome
Sólveig Óskarsdóttir (2004)
Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes.
Richard Edmund Ward (2000)
Ontogenetic and static allometry in the human face: contrasting Khoisan and Inuit.
Sarah E. Freidline (2015)
The pace of morphological change: historical transformation of skull shape in St Bernard dogs
Abby Grace Drake (2007)
Frequency of 22q11 deletions in patients with conotruncal defects.
Elizabeth Goldmuntz (1998)
The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.
Ambroise Wonkam (2017)
Congenital heart disease and genetic syndromes: new insights into molecular mechanisms
Giulio Calcagni (2017)
Failure to thrive as presentation in a patient with 22 q 11 . 2 microdeletion . Ital
G Bossi (2016)
Clinical features of 78 adults with 22q11 Deletion Syndrome.
Anne S. Bassett (2005)
Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces.
Tobias Vollmar (2008)
Clinical presentation of velo-cardio-facial syndrome
Holly H. Ardinger (2002)
22q11.2 deletion syndrome in diverse populations
Paul S Kruszka (2017)
Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
J. Britt Ravnan (1996)
Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.
Maria Christina Digilio (2003)
The 22q11.2 deletion in African-American patients: an underdiagnosed population?
Donna M. McDonald-McGinn (2005)
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
Loydie A. Jerome (2001)
Analysing human developmental abnormalities.
R M Winter (1996)
Effects of environmental perturbations during postnatal development on the phenotypic integration of the skull.
Paula N. Gonzalez (2011)
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
Donna M. McDonald-McGinn (2001)
Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome
Yael Levy-Shraga (2017)
Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients.
Gabriela M. Repetto (2009)
Craniofacial anthropometric analysis in patients with 22q11 microdeletion.
L Guyot (2001)
Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications.
Ann Swillen (2000)
Publisher's Note
Hilde van der Togt (2003)
Facial surface morphology predicts variation in internal skeletal shape.
Nathan M Young (2016)
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.
Candy Sue Márquez-Ávila (2015)
The facial phenotype of the velo-cardio-facial syndrome.
Sydney C. Butts (2009)
3D analysis of facial morphology.
Peter Hammond (2004)
Deletion 22q11: spectrum of associated disorders.
Beverly Hay (2007)
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
Francesca Amati (1995)
Characteristic Face: A Key Indicator for Direct Diagnosis of 22q11.2 Deletions in Chinese Velocardiofacial Syndrome Patients
Dandan Wu (2013)
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
Aravindhan Veerapandiyan (2011)
Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis
Shiva M. Singh (2002)
Growth charts for 22q11 deletion syndrome.
Daniel Tarquinio (2012)
Hand in glove: brain and skull in development and dysmorphogenesis
Joan T. Richtsmeier (2013)
Effects of growth hormone on the ontogenetic allometry of craniofacial bones.
Paula N. Gonzalez (2013)
Morphometric Tools for Landmarks Data: Geometryand Biology
F L Bookstein (1991)
Velo-cardio-facial syndrome. Management of genetic syndromes
RJ Shprintzen (2005)
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
Ashutosh Halder (2011)
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome
Gabriella Lania (2016)
Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
Donna M. McDonald-McGinn (2011)
The use of 3D face shape modelling in dysmorphology
Peter Hammond (2007)
Shape analysis of symmetric structures: quantifying variation among individuals and asymmetry.
Christian Peter Klingenberg (2002)
Phenotype of adults with the 22q11 deletion syndrome: A review.
Ellen Hanne Cohen (1999)
Sotos syndrome: evolution of facial phenotype subjective and objective assessment.
Judith Allanson (1996)
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Aimee K. Ryan (1997)
Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children.
Alex. Habel (2012)
Ontogenetic convergence and evolution of foot morphology in European cave salamanders (Family: Plethodontidae)
Dean C. Adams (2010)
Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.
Luc M Beauchesne (2005)
22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin.
Siv Fokstuen (1998)
Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: Illuminating the developmental relationship to risk for psychosis
Sarah E Prasad (2015)
Velo-cardio-facial syndrome.
Robert J. Shprintzen (2005)
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
Alex Habel (2013)
Craniofacial morphology of conotruncal anomaly face syndrome.
Ichiko Kitano (1997)
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia
A F Goodwin (2014)
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
Anthony Lipson (1991)
Facial features in children with the 22q11 deletion syndrome.
Sólveig Óskarsdóttir (2008)
Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)
Maria Christina Digilio (2001)
Clinical presentation of velo-cardio-facial syndrome
HH Ardinger (2002)
Facial analysis technology aids diagnoses of genetic disorders: applications narrow down potential genetic syndromes by matching facial phenotypes to distinct set of possible genetic conditions.
Deborah T. Levenson (2014)
Tools for Landmarks Data: Geometryand Biology
Bookstein (1991)
The tps series of software
F. James Rohlf (2015)
geomorph: an r package for the collection and analysis of geometric morphometric shape data
Dean C. Adams (2013)
Accuracy in identification of patients with 22q11.2 deletion by likely care providers using facial photographs.
Devra B Becker (2004)
Cardiac abnormalities and facial anthropometric measurements in children from the Free State and Northern Cape provinces of South Africa with chromosome 22q11.2 microdeletion
Sc Brown (2010)
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
Lisa J. Kobrynski (2007)
The 22q11 deletion syndromes.
Peter J. Scambler (2000)
Discriminating power of localized three-dimensional facial morphology.
Peter Hammond (2005)
Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.
Stuart Weinzimer (1998)
Failure to thrive as presentation in a patient with 22q11.2 microdeletion
Grazia Bossi (2016)
Geometric morphometrics for biologists : a primer
Miriam Leah Zelditch (2004)
A General Framework for the Analysis of Phenotypic Trajectories in Evolutionary Studies
Dean C. Adams (2009)
Large-scale objective phenotyping of 3D facial morphology.
Peter Hammond (2012)

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