NHS Logo

Velo-cardio-facial syndrome. (Record no. 92118)

MARC details
000 -LEADER
fixed length control field 05322cam a2200613Ii 4500
001 - CONTROL NUMBER
control field ocn906186134
003 - CONTROL NUMBER IDENTIFIER
control field OCoLC
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20240729131826.0
006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS--GENERAL INFORMATION
fixed length control field m d
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
fixed length control field cr cn|||||||||
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 150316t20082008caua ob 001 0 eng d
040 ## - CATALOGING SOURCE
Original cataloging agency E7B
019 ## -
-- 902958019
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 9781597567619
Qualifying information (electronic bk.)
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 1597567612
Qualifying information (electronic bk.)
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
Cancelled/invalid ISBN 9781597560719
035 ## - SYSTEM CONTROL NUMBER
System control number 944616
-- (N$T)
035 ## - SYSTEM CONTROL NUMBER
System control number (OCoLC)906186134
Canceled/invalid control number (OCoLC)902958019
072 #7 - SUBJECT CATEGORY CODE
Subject category code HEA
Subject category code subdivision 039000
Source bisacsh
072 #7 - SUBJECT CATEGORY CODE
Subject category code MED
Subject category code subdivision 014000
Source bisacsh
072 #7 - SUBJECT CATEGORY CODE
Subject category code MED
Subject category code subdivision 022000
Source bisacsh
072 #7 - SUBJECT CATEGORY CODE
Subject category code MED
Subject category code subdivision 112000
Source bisacsh
072 #7 - SUBJECT CATEGORY CODE
Subject category code MED
Subject category code subdivision 045000
Source bisacsh
049 ## - LOCAL HOLDINGS (OCLC)
Holding library MAIN
100 1# - MAIN ENTRY--PERSONAL NAME
Personal author Shprintzen, Robert J.,
Relator term author.
245 10 - TITLE STATEMENT
Title Velo-cardio-facial syndrome.
Number of part/section of a work Volume I /
Statement of responsibility, etc
Medium [E-Book]
264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Place of production, publication, distribution, manufacture San Diego :
Name of producer, publisher, distributor, manufacturer Plural Publishing, Inc.,
Date of production, publication, distribution, manufacture, or copyright notice [2008]
300 ## - PHYSICAL DESCRIPTION
Physical description 1 online resource (297 pages) :
Other physical details illustrations.
336 ## - CONTENT TYPE
Content type term text
Content type code txt
Source rdacontent
337 ## - MEDIA TYPE
Media type term computer
Media type code c
Source rdamedia
338 ## - CARRIER TYPE
Carrier type term online resource
Carrier type code cr
Source rdacarrier
490 1# - SERIES TITLE
Series statement Genetic syndromes and communication disorders series
504 ## - BIBLIOGRAPHY, ETC. NOTE
Bibliography, etc Includes bibliographical references and index.
505 0# - CONTENTS
Contents Preface; Chapter 1. The History of VCFS; Two Major Events in 1992; The Implications; Communication Disorders and VCFS; The Significance of Two Anomalies Occurring Together; The Implications for Speech Pathologists, Surgeons, and Other Craniofacial Specialists; What Do I Call It?; Chapter 2. The Expansive Phenotype of VCFS; Craniofacial Anomalies; Ear and Hearing Anomalies; The Nose; Eye Findings; Cardiac Findings; Vascular Anomalies; Brain and Central Nervouse System Anomalies; Pharyngeal, Laryngeal, and Airway Anomalies; Abdominal and Visceral Anomalies; Limb Anomalies.
505 8# - CONTENTS
Contents Problems in InfancyGenitourinary Anomalies; Skeletal, Muscle, Spinal, and Orthopedic Anomalies; Skin and Hair Findings; Endocrine and Immune Findings; Speech and Language Disorders; Cognitive, Learning, and Attentional Disorders; Psychiatric Disorders; Miscellaneous Anomalies; Secondary Developmental Sequences; Why the Expansive Phenotype?; Chapter 3. The Genetics of VCFS; What Does Genetic Mean?; Mode of Inheritance; Describing the Genome at 22q11.2; Determing the Nature of the Deletion in VCFS; How the Deletion Occurs; Identifying the Genes in the Deleted Region.
505 8# - CONTENTS
Contents Determining What the Genes Do, Identifying Candidate Genes for Specific Phenotypes, and Identifying PolymorphismsAnimal Models and Knockouts; How Is a Deletion Different from Other Types of Mutations?; Genetic Effects Outside of the 22q11.2 Region that Contribute to the Phenotype; Epigenetic Factors that Might Contribute to the Phenotypic Spectrum; Genetic Counseling for VCFS; Mosaicism and Germline (Gonadal) Mosaicism; Counseling for People with VCFS; Chapter 4. Triage in VCFS: Utilizing the Natural History; Audiology (Hearing Test); Cardiology (Pediatric Cardiology); Cardiothoracic Surgery.
505 8# - CONTENTS
Contents Clinical Genetics and Genetic CounselingDentistry and Orthodontics; Developmental Pediatrics; Endocrine Evaluation; Gastroenterology (Pediatric Gastroenterology); Immunology Evaluation; Magnetic Resonance Imaging and Angiography; Nasopharyngoscopy, FEES or FEESST, Direct Laryngoscopy, Bronchoscopy, Esophagoscopy, and Gastroscopy; Nephrology; Neurology; Neuropsychology; Neurosurgical Evaluation; Nutrition; Ophthalmology (Pediatric Ophthalmology); Orthopedics; Otolaryngology; Physcial Therapy; Podiatry; Psychiatry; Pulmonology (Pediatric Pulmonology); Reconstructive Surgery; Renal Ultrasound.
505 8# - CONTENTS
Contents Sppech-Language EvaluationUrology; Videofluoroscopy for Speech; Videofluoroscopy for Swallowing; Chapter 5. Growth, Weight Gain, and Feeding; Is Short Stature a Feature of VCFS?; Significance of These Data and the Growth Curve; Possible Flaws in the Data; Implications; Feeding Therapy; Emesis and Spitting Up Through the Nose; Feeding Time (Duration); Feeding Position; Type of Bottle and Nipple; Burping; Identifying and Understanding the Factors Leading to Problems; What if the Child Already has a Tube?; Appendix. Clinical Synopsis of VCFS; Index.
520 ## - ABSTRACT
Abstract Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans and almost all children with the syndrome have speech and language impairments that are generally recognized to be complex and difficult to treat. This book provides information on aspects of speech and language and the difficulties most often associated with VCFS. Authors also consider how these difficulties interact with each other.
590 ## - LOCAL NOTE (RLIN)
Local note Master record variable field(s) change: 050
650 #0 - SUBJECT HEADINGS
Subject term Velocardiofacial syndrome.
650 #4 - SUBJECT HEADINGS
Subject term Genetic disorders.
650 #4 - SUBJECT HEADINGS
Subject term Medicine.
650 #4 - SUBJECT HEADINGS
Subject term Velocardiofacial syndrome.
700 1# - ADDED PERSONAL NAME
Added personal author Golding-Kushner, Karen J.,
Relator term author.
830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE
Uniform title Genetic syndromes and communication disorders series.
856 ## - ONLINE RESOURCE
Uniform Resource Identifier <a href="#gotoholdings">#gotoholdings</a>
Link text Access resource
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Suppress in OPAC Do not Suppress in OPAC
588 0# - SOURCE OF DESCRIPTION NOTE
Source of description note Online resource; title from PDF title page (ebrary, viewed March 16, 2015).
938 ## -
-- EBL - Ebook Library
-- EBLB
-- EBL1936445
938 ## -
-- ebrary
-- EBRY
-- ebr11018131
938 ## -
-- EBSCOhost
-- EBSC
-- 944616
994 ## -
-- 92
-- N$T
Holdings
Withdrawn status Lost status Damaged status Not for loan Home library Current library Shelving location Date acquired Source of acquisition Total Checkouts Date last seen Uniform Resource Identifier Price effective from Koha item type
        Stenhouse Library (Kingston Hospital) Stenhouse Library (Kingston Hospital) Online 28/11/2022 eBook EBSCO clinical collection   28/11/2022 https://search.ebscohost.com/login.aspx?custid=ns123844&authtype=ip,shib&direct=true&scope=site&db=nlebk&db=nlabk&AN=944616 28/11/2022 Electronic book
London Health Libraries Consortium Privacy notice and Membership terms and conditions