The University of Southampton
University of Southampton Institutional Repository

Discriminating power of localized three-dimensional facial morphology

Discriminating power of localized three-dimensional facial morphology
Discriminating power of localized three-dimensional facial morphology
Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination and genotyping are undertaken. Previously, using visualization and pattern recognition, we showed that dense surface models (DSMs) of full face shape characterize facial dysmorphology in Noonan and in 22q11 deletion syndromes. In this much larger study of 696 individuals, we extend the use of DSMs of the full face to establish accurate discrimination between controls and individuals with Williams, Smith-Magenis, 22q11 deletion, or Noonan syndromes and between individuals with different syndromes in these groups. However, the full power of the DSM approach is demonstrated by the comparable discriminating abilities of localized facial features, such as periorbital, perinasal, and perioral patches, and the correlation of DSM-based predictions and molecular findings. This study demonstrates the potential of face shape models to assist clinical training through visualization, to support clinical diagnosis of affected individuals through pattern recognition, and to enable the objective comparison of individuals sharing other phenotypic or genotypic properties.
london, noonan syndrome, face, syndrome, diagnosis
0002-9297
999-1010
Hammond, Peter
29a53465-6b81-44a1-9390-c8a810e148e9
Hutton, Tim J.
8378de75-db29-4324-8829-aef3e37f439e
Allanson, Judith E.
035e63a4-2446-4b00-8a40-70fac13f8471
Buxton, Bernard
29b801bd-da52-4936-b145-72d23a8fc5e8
Campbell, Linda E.
371996b8-6fec-4559-a379-eddd322ab09d
Clayton-Smith, Jill
df8946ac-9da9-4ef2-b180-f468a5424844
Donnai, Dian
7758b3a7-e2ea-4330-8c72-fdf6d4e75eea
Karmiloff-Smith, Annette
b205fed0-9a5f-4384-8c4d-5cddf8063578
Metcalfe, Kay
3d9e7897-065f-4cdd-accf-a7ddacb1d448
Murphy, Kieran C.
eae3a60e-aa25-47fc-85b2-aa60f370e14f
Patton, Michael
a798b7cb-03d5-4aaf-bee1-c2e8e1f15f7d
Pober, Barbara
34d4ede8-7481-4d75-b0c6-594c4fce5f23
Prescott, Katrina
948c0588-b5c6-4243-8486-1d632804e6aa
Scambler, Pete
b84fa170-b6ac-4d74-a5e4-187f61d62188
Shaw, Adam
cca8f84a-f3ea-4e47-8c16-d757e7a38e06
Smith, Anne C.M.
4c986c9e-8f75-44e8-8c1a-ab30711be7ae
Stevens, Angela F.
fbabd84c-d09e-4807-aabe-a30167d127fb
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Hennekam, Raoul
f858a1f3-f2e0-48d7-8fcb-ddee23e05762
Tassabehji, May
80a2c8b7-4443-4c0c-b5a8-e248dac2b7e7
Hammond, Peter
29a53465-6b81-44a1-9390-c8a810e148e9
Hutton, Tim J.
8378de75-db29-4324-8829-aef3e37f439e
Allanson, Judith E.
035e63a4-2446-4b00-8a40-70fac13f8471
Buxton, Bernard
29b801bd-da52-4936-b145-72d23a8fc5e8
Campbell, Linda E.
371996b8-6fec-4559-a379-eddd322ab09d
Clayton-Smith, Jill
df8946ac-9da9-4ef2-b180-f468a5424844
Donnai, Dian
7758b3a7-e2ea-4330-8c72-fdf6d4e75eea
Karmiloff-Smith, Annette
b205fed0-9a5f-4384-8c4d-5cddf8063578
Metcalfe, Kay
3d9e7897-065f-4cdd-accf-a7ddacb1d448
Murphy, Kieran C.
eae3a60e-aa25-47fc-85b2-aa60f370e14f
Patton, Michael
a798b7cb-03d5-4aaf-bee1-c2e8e1f15f7d
Pober, Barbara
34d4ede8-7481-4d75-b0c6-594c4fce5f23
Prescott, Katrina
948c0588-b5c6-4243-8486-1d632804e6aa
Scambler, Pete
b84fa170-b6ac-4d74-a5e4-187f61d62188
Shaw, Adam
cca8f84a-f3ea-4e47-8c16-d757e7a38e06
Smith, Anne C.M.
4c986c9e-8f75-44e8-8c1a-ab30711be7ae
Stevens, Angela F.
fbabd84c-d09e-4807-aabe-a30167d127fb
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Hennekam, Raoul
f858a1f3-f2e0-48d7-8fcb-ddee23e05762
Tassabehji, May
80a2c8b7-4443-4c0c-b5a8-e248dac2b7e7

Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Anne C.M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul and Tassabehji, May (2005) Discriminating power of localized three-dimensional facial morphology. American Journal of Human Genetics, 77 (6), 999-1010. (doi:10.1086/498396).

Record type: Article

Abstract

Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination and genotyping are undertaken. Previously, using visualization and pattern recognition, we showed that dense surface models (DSMs) of full face shape characterize facial dysmorphology in Noonan and in 22q11 deletion syndromes. In this much larger study of 696 individuals, we extend the use of DSMs of the full face to establish accurate discrimination between controls and individuals with Williams, Smith-Magenis, 22q11 deletion, or Noonan syndromes and between individuals with different syndromes in these groups. However, the full power of the DSM approach is demonstrated by the comparable discriminating abilities of localized facial features, such as periorbital, perinasal, and perioral patches, and the correlation of DSM-based predictions and molecular findings. This study demonstrates the potential of face shape models to assist clinical training through visualization, to support clinical diagnosis of affected individuals through pattern recognition, and to enable the objective comparison of individuals sharing other phenotypic or genotypic properties.

This record has no associated files available for download.

More information

Published date: December 2005
Keywords: london, noonan syndrome, face, syndrome, diagnosis

Identifiers

Local EPrints ID: 59801
URI: http://eprints.soton.ac.uk/id/eprint/59801
ISSN: 0002-9297
PURE UUID: 05c6ef29-4168-41d0-abc6-fb0590378e76
ORCID for I. Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 03 Sep 2008
Last modified: 16 Mar 2024 03:03

Export record

Altmetrics

Contributors

Author: Peter Hammond
Author: Tim J. Hutton
Author: Judith E. Allanson
Author: Bernard Buxton
Author: Linda E. Campbell
Author: Jill Clayton-Smith
Author: Dian Donnai
Author: Annette Karmiloff-Smith
Author: Kay Metcalfe
Author: Kieran C. Murphy
Author: Michael Patton
Author: Barbara Pober
Author: Katrina Prescott
Author: Pete Scambler
Author: Adam Shaw
Author: Anne C.M. Smith
Author: Angela F. Stevens
Author: I. Karen Temple ORCID iD
Author: Raoul Hennekam
Author: May Tassabehji

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×