Face–brain asymmetry in autism spectrum disorders

Hammond, Peter; Forster-Gibson, Cynthia; Chudley, Albert E.; Allanson, Judith; Hutton, Tim J.; Farrell, S. A.; McKenzie, John A.; Holden, Jeanette J. A.; Sm, Lewis

doi:10.1038/mp.2008.18

Cited by 97 publications

(130 citation statements)

References 28 publications

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“…1,2 Using highly sensitive models of facial morphology, it has been possible to detect subtle differences in atypical patients and inform genotype-phenotype studies. 3,4 Advanced molecular genetic techniques have established increasingly detailed correlations between genotype and phenotype.…”

Section: Introductionmentioning

confidence: 99%

Face shape differs in phylogenetically related populations

Hopman

Merks

Suttie³

et al. 2014

Eur J Hum Genet

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3D analysis of facial morphology has delineated facial phenotypes in many medical conditions and detected fine grained differences between typical and atypical patients to inform genotype-phenotype studies. Next-generation sequencing techniques have enabled extremely detailed genotype-phenotype correlative analysis. Such comparisons typically employ control groups matched for age, sex and ethnicity and the distinction between ethnic categories in genotype-phenotype studies has been widely debated. The phylogenetic tree based on genetic polymorphism studies divides the world population into nine subpopulations. Here we show statistically significant face shape differences between two European Caucasian populations of close phylogenetic and geographic proximity from the UK and The Netherlands. The average face shape differences between the Dutch and UK cohorts were visualised in dynamic morphs and signature heat maps, and quantified for their statistical significance using both conventional anthropometry and state of the art dense surface modelling techniques. Our results demonstrate significant differences between Dutch and UK face shape. Other studies have shown that genetic variants influence normal facial variation. Thus, face shape difference between populations could reflect underlying genetic difference. This should be taken into account in genotype-phenotype studies and we recommend that in those studies reference groups be established in the same population as the individuals who form the subject of the study.

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Section: Introductionmentioning

confidence: 99%

Face shape differs in phylogenetically related populations

Hopman

Merks

Suttie³

et al. 2014

Eur J Hum Genet

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“…16,17 Development of the structures of the upper facial third is strictly related to forebrain development, and alterations in orbital characteristics may derive from cerebral malformations in the embryonic and fetal period. 1,22 In the current study, the faces of 2 groups of subjects with DS (Italian white and North Sudanese) were imaged in 3 dimensions using computerized instruments, and the morphologic features of their orbital soft tissues were quantitatively analyzed using indirect, computerized anthropometry. Data were compared with values collected in normal, healthy individuals of the same age, sex, and ethnicity.…”

Section: Y7mentioning

confidence: 99%

Morphometry of the Orbital Region Soft Tissues in Down Syndrome

Sforza

Elamin

Dellavia

et al. 2012

Journal of Craniofacial Surgery

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The orbital region of subjects with Down syndrome (DS) has been scanty described so far. We wanted to detail the morphologic characteristics of the soft tissue orbital region in Italian and North Sudanese subjects with DS.The three-dimensional coordinates of 10 landmarks on the orbital soft tissues were obtained using computerized anthropometry in 53 Italian and 64 North Sudanese subjects with DS aged 4 to 52 years, and in 461 (Italian) and 682 (North Sudanese) sex-and age-matched controls. From the landmarks, linear distances, ratios, areas, and angles were calculated, z scores computed, and compared by t-tests and analyses of covariance.In North Sudanese DS subjects, intercanthal width and height-tolength ratio were increased; biorbital width, eye height, length, and area were reduced. Eye fissure and orbital inclinations relative to Frankfort plane were reduced, whereas orbital inclinations versus the true horizontal were increased. In Italian DS men, orbital height and height-to-length ratio were increased, eye length was decreased; orbital inclination versus the true horizontal was increased. For almost all measurements, a significant effect of age was found. No effects of sex were found. Ethnic group influenced orbital height, area, and orbital inclination versus Frankfort plane. All paired measurements had similar discrepancies on both sides.The orbital soft tissues of North Sudanese DS subjects differed from those of their reference subjects, but this was only partially true for Italian subjects. The 2 ethnic groups had different alterations in their soft tissue orbital regions that were influenced by age, but not by sex.Key Words: Face, three-dimensional, soft tissues, anthropometry, Down syndrome (J Craniofac Surg 2012;23: 198Y202) T he soft tissues of the orbital region play a major role in the evaluation and recognition of the craniofacial complex, and relevant anthropometric data are often used for multiple diagnostic and forensic procedures. Among others, there are evaluations of traumas, chromosomal and single gene alterations, teratogenic-induced conditions such as the fetal alcohol syndrome, and facial reconstruction.1Y3 Sex, age, and ethnicity are factors that influence the soft tissue characteristics of the orbital region significantly, both in healthy subjects and in patients. 2Y7Down syndrome (DS) (Mendelian Inheritance in Man no. 1906858) is the most frequent autosomal aneuploidy in live-born humans. Down syndrome is produced by the complete or partial trisomy of chromosome 21, and it is characterized by several morphologic and functional alterations of body structures, from cellular organelles to multiorgan systems, which are present in varying degrees in the affected individuals.8 A distinctive craniofacial appearance is present in almost all persons with DS. 8 Subjects with DS have a reduced head size with a modified head shape; a decrease in the interorbital distance, a small palpebral fissure, and a prominent forehead; a hypoplastic facial middle third (maxilla) with a les...

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“…25,26 Previously, studies using 3D DSMs of face shape have delineated common facial features in a range of neurodevelopmental conditions, often, in addition, establishing accurate discriminating characteristics or assisting the determination of phenotype-genotype correlations. [26][27][28][29][30][31][32][33][34] We have shown that DSMbased analysis provides a very accurate instrument for classifying faces or facial regions along the control-WHS spectrum. In addition, for the first time, we have used DSMs to construct mean face surfaces matched for age and size for fine-grained analysis of six individuals, so that subtle face shape differences can be related to the underlying genotype.…”

Section: Wolf-hirschhorn Syndrome (Whs; Omim 194190) Is a Contiguous mentioning

confidence: 99%

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

Hammond¹,

Hannes

Suttie³

et al. 2011

Eur J Hum Genet

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Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf-Hirschhorn syndrome facial phenotype.

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Face–brain asymmetry in autism spectrum disorders

Cited by 97 publications

References 28 publications

Face shape differs in phylogenetically related populations

Face shape differs in phylogenetically related populations

Morphometry of the Orbital Region Soft Tissues in Down Syndrome

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

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