Literature DB >> 19062108

The facial phenotype of the velo-cardio-facial syndrome.

Sydney C Butts1.   

Abstract

Velo-cardio-facial syndrome (VCFS) is a genetic disorder that is common but often variable in its expression. Several key organ systems are most often affected, including the craniofacial skeleton and soft tissues. Identification of the associated facial features will aid in the improved detection of patients. This review aims to highlight the approaches to facial analysis that are essential to the detection of the facial dysmorphisms in velo-cardio-facial syndrome, many of which may be subtle.

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Year:  2008        PMID: 19062108     DOI: 10.1016/j.ijporl.2008.10.011

Source DB:  PubMed          Journal:  Int J Pediatr Otorhinolaryngol        ISSN: 0165-5876            Impact factor:   1.675


  14 in total

1.  Mesodermal Tbx1 is required for patterning the proximal mandible in mice.

Authors:  Vimla S Aggarwal; Courtney Carpenter; Laina Freyer; Jun Liao; Marilena Petti; Bernice E Morrow
Journal:  Dev Biol       Date:  2010-05-23       Impact factor: 3.582

2.  Commonality in Down and fetal alcohol syndromes.

Authors:  Jeffrey P Solzak; Yun Liang; Feng C Zhou; Randall J Roper
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2013-04-03

3.  The face signature of fibrodysplasia ossificans progressiva.

Authors:  Peter Hammond; Michael Suttie; Raoul C Hennekam; Judith Allanson; Eileen M Shore; Frederick S Kaplan
Journal:  Am J Med Genet A       Date:  2012-05-11       Impact factor: 2.802

4.  The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.

Authors:  Estephania Candelo; Maria Alejandra Estrada-Mesa; Adriana Jaramillo; Carlos Humberto Martinez-Cajas; Julio Cesar Osorio; Harry Pachajoa
Journal:  Appl Clin Genet       Date:  2021-06-01

5.  DiGeorge Syndrome: a not so rare disease.

Authors:  Angela B F Fomin; Antonio Carlos Pastorino; Chong Ae Kim; C A Pereira; Magda Carneiro-Sampaio; Cristina Miuki Abe-Jacob
Journal:  Clinics (Sao Paulo)       Date:  2010       Impact factor: 2.365

6.  Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties.

Authors:  Bülent Hacıhamdioğlu; Merih Berberoğlu; Zeynep Şıklar; Figen Doğu; Pelin Bilir; Şenay Savaş Erdeve; Aydan İkincioğulları; Gönül Öçal
Journal:  J Clin Res Pediatr Endocrinol       Date:  2011-06-08

7.  Association of juvenile idiopathic arthritis and digeorge syndrome; a case report.

Authors:  Farhad Salehzadeh; Amin Bagheri
Journal:  Iran J Pediatr       Date:  2014-06       Impact factor: 0.364

8.  Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: illuminating the developmental relationship to risk for psychosis.

Authors:  Sarah Prasad; Stanislav Katina; Robin J Hennessy; Kieran C Murphy; Adrian W Bowman; John L Waddington
Journal:  Am J Med Genet A       Date:  2015-03       Impact factor: 2.802

9.  Genome-wide association mapping and identification of candidate genes for the rumpless and ear-tufted traits of the Araucana chicken.

Authors:  Rooksana E Noorai; Nowlan H Freese; Lindsay M Wright; Susan C Chapman; Leigh Anne Clark
Journal:  PLoS One       Date:  2012-07-23       Impact factor: 3.240

10.  DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood.

Authors:  Adrian Zammit; Deborah Grech Marguerat; Josephine Psaila; Alexander Attard
Journal:  Case Rep Med       Date:  2013-05-20
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