PMID: 11337741May 5, 2001Paper

Craniofacial anthropometric analysis in patients with 22q11 microdeletion

American Journal of Medical Genetics
L GuyotN Philip

Abstract

Microdeletions in the 22q11 region are associated with a wide range of overlapping phenotypes. The main manifestations of the syndrome include palatal anomalies such as cleft palate or velopharyngeal insufficiency, conotruncal heart defects, hypocalcemia, immune disorders, and minor facial anomalies. Because of the wide variability, facial changes appear to be the most constant manifestation of the syndrome and characteristic for informed physicians. The purpose of this study is to report the preliminary results of a detailed analysis of anthropometric data (35 measurements) in 15 patients (7 females and 8 males between 5 and 38 years of age, all white Europeans) with a 22q11 microdeletion. Objective anthropometric study showed that 19 measurements and 7 indexes were significantly different between 22q11 patients and normative database. The typical face showed a short forehead with an anterior vertical excess. Downslanting eyes and large binocular width were the most common anomalies in the orbital area. The nose showed anomalies with a large root, a short tip, and a narrow alar base. There was a narrowing of the mouth and thin lips. Ears were small and slightly disharmonic for the children. Statistical comparison between child...Continue Reading

References

Sep 1, 1977·Scandinavian Journal of Dental Research·B Solow, S Kreiborg
Jun 1, 1988·Oral Surgery, Oral Medicine, and Oral Pathology·H O Sedano, R J Gorlin
Aug 1, 1986·Archives of Otolaryngology--head & Neck Surgery·J C Klein
Oct 1, 1993·Journal of Medical Genetics·J BurnJ Goodship
Oct 2, 1996·American Journal of Medical Genetics·A G Hunter
Oct 2, 1996·American Journal of Medical Genetics·J E Allanson, T R Cole
Mar 31, 1997·American Journal of Medical Genetics·R F Stratton, R M Payne
May 2, 1997·American Journal of Medical Genetics·J E Allanson
Sep 5, 1997·American Journal of Medical Genetics·J E Allanson, R C Hennekam
Nov 5, 1997·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·I KitanoT Susami
Sep 11, 1998·Journal of Medical Genetics·K DevriendtK Keymolen
Dec 8, 1998·American Journal of Medical Genetics·R E WardL G Farkas
Sep 24, 1999·American Journal of Medical Genetics·E CohenA S Bassett

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Citations

Nov 17, 2011·Journal of Digital Imaging·Katarzyna WilamowskaLinda Shapiro
May 17, 2011·Behavior Genetics·Nicole Philip, Anne Bassett
Nov 26, 2009·Plastic and Reconstructive Surgery·Carrie L HeikeJacqueline R Starr
Jul 9, 2005·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Chiarella SforzaVirgilio F Ferrario
Nov 6, 2010·Gynécologie, obstétrique & fertilité·N PhilipS Sigaudy
Jul 28, 2010·European Journal of Medical Genetics·Florence BretelleNicole Philip
Dec 9, 2008·International Journal of Pediatric Otorhinolaryngology·Sydney C Butts
May 17, 2008·Acta Paediatrica·S OskarsdóttirK Strömland
Nov 2, 2013·Cerebral Cortex·C A MontojoC E Bearden
May 10, 2006·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Chiarella SforzaVirgilio F Ferrario
Sep 21, 2004·American Journal of Medical Genetics. Part a·Chiarella SforzaVirgilio F Ferrario
Apr 21, 2004·American Journal of Medical Genetics. Part a·Peter HammondRobin M Winter
Nov 16, 2007·American Journal of Medical Genetics. Part a·Stephen R BraddockBernard L Maria
Dec 17, 2004·Annals of Plastic Surgery·Virgilio F FerrarioChiarella Sforza
Dec 13, 2019·Head & Face Medicine·Arodi FarreraRocío Sánchez-Urbina

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