Velo-cardio-facial syndrome / (Record no. 3416)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 04257cam a22003734a 4500 |
| 001 - CONTROL NUMBER | |
| control field | 15192206 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OSt |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20220309104045.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 080221m20082011caua b 001 0 eng |
| 010 ## - LIBRARY OF CONGRESS CONTROL NUMBER | |
| LC control number | 2008008002 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781597560719 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (DNLM)101466790 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | DNLM/DLC |
| Transcribing agency | DLC |
| Modifying agency | DLC |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | pcc |
| 050 00 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RB155.5 |
| Item number | .S573 2008 |
| 060 10 - NATIONAL LIBRARY OF MEDICINE CALL NUMBER | |
| Classification number | QS 675 |
| Item number | S5596v 2008 |
| 082 00 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616.855 042 SHP G; 1 |
| Edition number | 22 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Shprintzen, Robert J. |
| 245 10 - TITLE STATEMENT | |
| Title | Velo-cardio-facial syndrome / |
| Statement of responsibility, etc. | Robert J. Shprintzen and Karen J. Golding-Kushner. |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | San Diego : |
| Name of publisher, distributor, etc. | Plural Pub., |
| Date of publication, distribution, etc. | 2008-c2011. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1v. : |
| Other physical details | ill. ; |
| Dimensions | 26 cm. + |
| Accompanying material | 1 CD-ROM (4 3/4 in.) |
| 490 0# - SERIES STATEMENT | |
| Series statement | Genetic syndromes and communication disorders series |
| 500 ## - GENERAL NOTE | |
| General note | Vol. 2 has other title information: Treatment of communication disorders / Karen Golding-Kushner, Robert J. Shprintzen. |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE | |
| Bibliography, etc. note | Includes bibliographical references and index. |
| 505 ## - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Preface Chapter 1: The History of VCFS The History of VCFS Two Major Events in 1992 Communication Disorders and VCFS The Significance of Two Anomalies Occurring Together The Implications for Speech Pathologists, Surgeons, and Other Craniofacial Specialties 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 Nervous System Anomalies Pharyngeal, Laryngeal, and Airway Anomalies Abdominal and Visceral Anomalies Limb Anomalies Problems in Infancy Genitourinary Anomalies Skeletal, Muscle, Spine, 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 Determining the Nature of the Deletion in VCFS How the Deletion Occurs Identifying the Genes in the Deleted Region Determining What the Genes Do, Identifying Candidate Genes for Specific Phenotypes, and Identifying Polymorphisms Animal Models and Knockouts How Is a Deletion Different from Other 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 Mosaicism Counseling for People with VCFS Chapter 4: Triage in VCFS: Utilizing the Natural History Audiology (Hearing Testing) Cardiology (Pediatric Cardiology) Cardiothoracic Surgery Clinical Genetics and Genetic Counseling Dentistry 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 Physical Therapy Podiatry Psychiatry Pulmonology (Pediatric Pulmonology) Reconstructive Surgery Renal Ultrasound Speech-Language Evaluation Urology 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 |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Velocardiofacial syndrome. |
| 650 12 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DiGeorge Syndrome. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Golding-Kushner, Karen J. |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Materials specified | Table of contents only |
| Uniform Resource Identifier | <a href="http://www.loc.gov/catdir/toc/ecip0812/2008008002.html">http://www.loc.gov/catdir/toc/ecip0812/2008008002.html</a> |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Materials specified | CD-ROM |
| Uniform Resource Identifier | <a href="http://192.168.100.26/cdrom/289-17839.rar">http://192.168.100.26/cdrom/289-17839.rar</a> |
| 906 ## - LOCAL DATA ELEMENT F, LDF (RLIN) | |
| a | 7 |
| b | cbc |
| c | orignew |
| d | 1 |
| e | ecip |
| f | 20 |
| g | y-gencatlg |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Koha item type | Stack text books |
| Withdrawn status | Lost status | Source of classification or shelving scheme | Damaged status | Not for loan | Collection code | Home library | Current library | Date acquired | Total Checkouts | Full call number | Barcode | Date last seen | Price effective from | Koha item type | Date last checked out |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | 51/4 | All India Institute of Speech and Hearing | All India Institute of Speech and Hearing | 04/10/2019 | 616.855 042 SHP G | 16436 | 04/10/2019 | 04/10/2019 | Stack text books | ||||||
| Dewey Decimal Classification | R-30/1 | All India Institute of Speech and Hearing | All India Institute of Speech and Hearing | 26/02/2020 | 1 | 616.042 GOL S.2 | 17839 | 07/12/2022 | 26/02/2020 | Reference text books | 03/12/2022 | ||||
| Dewey Decimal Classification | R-30/1 | All India Institute of Speech and Hearing | All India Institute of Speech and Hearing | 26/02/2020 | 616.042 GOL S.2; 1 | 17840 | 26/02/2020 | 26/02/2020 | Reference text books |