Literature DB >> 11449784

Velocardiofacial syndrome.

R J Shprintzen1.   

Abstract

Velocardiofacial syndrome is one of the most common multiple-anomaly syndromes in humans. With its many otolaryngologic manifestations and its almost ubiquitous effects on speech, language, hearing, immune dysfunction, and airway problems, velocardiofacial syndrome may be the most common genetic disorder seen by pediatric otolaryngologists. Individuals affected with velocardiofacial syndrome look essentially normal making identification of the syndrome difficult, especially in infants. It is critical for otolaryngologists to be familiar with the symptom complex associated with velocardiofacial syndrome so as to understand the unique manifestations of this complex disorder.

Entities:  

Mesh:

Year:  2000        PMID: 11449784     DOI: 10.1016/s0030-6665(05)70278-4

Source DB:  PubMed          Journal:  Otolaryngol Clin North Am        ISSN: 0030-6665            Impact factor:   3.346


  14 in total

1.  Shape-based classification of 3D facial data to support 22q11.2DS craniofacial research.

Authors:  Katarzyna Wilamowska; Jia Wu; Carrie Heike; Linda Shapiro
Journal:  J Digit Imaging       Date:  2012-06       Impact factor: 4.056

2.  Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling.

Authors:  Vandana Shashi; Matcheri Keshavan; Jessica Kaczorowski; Kelly Schoch; Kathryn E Lewandowski; Allyn McConkie-Rosell; Stephen R Hooper; Thomas R Kwapil
Journal:  J Genet Couns       Date:  2010-08-03       Impact factor: 2.537

3.  Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome.

Authors:  Andrea S Young; Vandana Shashi; Kelly Schoch; Thomas Kwapil; Stephen R Hooper
Journal:  Asian J Psychiatr       Date:  2011-06-01

4.  Atypical developmental trajectory of functionally significant cortical areas in children with chromosome 22q11.2 deletion syndrome.

Authors:  Siddharth Srivastava; Michael H Buonocore; Tony J Simon
Journal:  Hum Brain Mapp       Date:  2011-03-17       Impact factor: 5.038

5.  Altered development of the dorsolateral prefrontal cortex in chromosome 22q11.2 deletion syndrome: an in vivo proton spectroscopy study.

Authors:  Vandana Shashi; Aravindhan Veerapandiyan; Matcheri S Keshavan; Michael Zapadka; Kelly Schoch; Thomas R Kwapil; Stephen R Hooper; Jeffrey A Stanley
Journal:  Biol Psychiatry       Date:  2012-05-25       Impact factor: 13.382

6.  Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome.

Authors:  Vandana Shashi; Thomas R Kwapil; Jessica Kaczorowski; Margaret N Berry; Cesar S Santos; Timothy D Howard; Dhruman Goradia; Konasale Prasad; Diwadkar Vaibhav; Rajaprabhakaran Rajarethinam; Edward Spence; Matcheri S Keshavan
Journal:  Psychiatry Res       Date:  2010-01-30       Impact factor: 3.222

7.  [Small deletion--large effect].

Authors:  K Lüerssen; M Pruggmayer; M Ptok
Journal:  HNO       Date:  2004-03       Impact factor: 1.284

8.  A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome.

Authors:  Stephen R Hooper; Kathleen Curtiss; Kelly Schoch; Matcheri S Keshavan; Andrew Allen; Vandana Shashi
Journal:  Res Dev Disabil       Date:  2013-03-16

9.  C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome.

Authors:  Osnat Konen; Derek Armstrong; Howard Clarke; Nancy Padfield; Rosanna Weksberg; Susan Blaser
Journal:  Pediatr Radiol       Date:  2008-05-31

Review 10.  Velo-cardio-facial syndrome: 30 Years of study.

Authors:  Robert J Shprintzen
Journal:  Dev Disabil Res Rev       Date:  2008
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