Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome

This study has been completed.

First Received on October 31, 2008. No Changes Posted

Sponsor:	Pontificia Universidade Catolica de Sao Paulo
Information provided by:	Pontificia Universidade Catolica de Sao Paulo
ClinicalTrials.gov Identifier:	NCT00784173

Purpose

Middle and inner ear malformations on two boys with velocardiofacial syndrome are discussed.Special attention should be given to the presence of hearing loss due to middle and inner ear malformations, in addition to frequent conductive hearing loss regarding mastoid and middle ear inflammatory processes.

Condition
Ear Malformations in the Velocardiofacial Syndrome

Study Type:	Observational
Study Design:	Observational Model: Case-Only Time Perspective: Prospective
Official Title:	Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome

Resource links provided by NLM:

Genetics Home Reference related topics: 17q21.31 microdeletion syndrome 22q11.2 deletion syndrome Baller-Gerold syndrome Crouzon syndrome tetrasomy 18p

U.S. FDA Resources

Further study details as provided by Pontificia Universidade Catolica de Sao Paulo:

Enrollment:	2
Study Start Date:	January 2007
Study Completion Date:	June 2007
Primary Completion Date:	March 2007 (Final data collection date for primary outcome measure)

Detailed Description:

Two boys with clinical signs of velocardiofacial syndrome, at ages of 4.7 and 6,7 years old are the subjects of this study.Audiological evaluation, including pure tone audiometry, tympanometry, acoustical reflex, and Computerized Tomography of temporal bones, and analyses of DNA sample with markers of 22q11 region were performed.

Eligibility

Genders Eligible for Study:	Male
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Children with velocardiofacial syndrome

Criteria

Inclusion Criteria:

Subjects with velocardiofacial syndrome

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00784173

Sponsors and Collaborators

Pontificia Universidade Catolica de Sao Paulo

Investigators

Principal Investigator:

Alfredo Tabith-Junior, MD

Pontificia Universidade Católica de São Paulo

More Information

No publications provided

Responsible Party:	Alfredo Tabith Junior, Pontificia Universidade Catolica de São Paulo
ClinicalTrials.gov Identifier:	NCT00784173 History of Changes
Other Study ID Numbers:	Unique protocol
Study First Received:	October 31, 2008
Last Updated:	October 31, 2008
Health Authority:	Brazil: National Committee of Ethics in Research

Keywords provided by Pontificia Universidade Catolica de Sao Paulo:

Syndrome
Velocardiofacial
Middle ear
Inner ear
Malformation

Additional relevant MeSH terms:

Congenital Abnormalities
DiGeorge Syndrome
22q11 Deletion Syndrome
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases

Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Abnormalities, Multiple
Chromosome Disorders
Genetic Diseases, Inborn
Hypoparathyroidism
Parathyroid Diseases
Endocrine System Diseases

ClinicalTrials.gov processed this record on February 09, 2012