Velo-Cardio-Facial Syndrome
by Shprintzen, Robert J.; Golding-Kushner, Karen J.; Higgins, Anne Marie (CON)Edition: 1st
Format: Paperback
Pub. Date: 2008-07-30
Publisher(s): Plural Pub Inc
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Summary
With an estimated human population prevalence of at least 1:2000, Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans. Almost all children with the syndrome have speech and language impairments that are generally recognized to be complex and difficult to treat.
Author Biography
Robert Shprintzen, PhD A founding member of The Velo-Cardio-Facial Syndrome Educational Foundation, Inc. and its first Executive Director, Dr. Shprintzen is Director of several programs at the State University of New York Upstate Medical University in Syracuse, New York, including the Communication Disorder Unit, The Velo-Cardio-Facial Syndrome International Center, and the Center for Genetic Communicative Disorders. He is Professor of Otolaryngology and Professor of Pediatrics at Upstate Karen J. Golding-Kushner, PhD Also a founding member of the The Velo-Cardio-Facial Syndrome Educational Foundation, Inc., Dr. Golding-Kushner was elected to the position of Executive Director of that organization, succeeding Dr. Shprintzen
Table of Contents
| Preface | p. ix |
| The History of VCFS | p. 1 |
| Two Major Events in 1992 | p. 9 |
| The Implications | p. 10 |
| Communication Disorders and VCFS | p. 11 |
| The Significance of Two Anomalies Occurring Together | p. 13 |
| The Implications for Speech Pathologists, Surgeons, and Other Craniofacial Specialists | p. 14 |
| What Do I Call It? | p. 14 |
| The Expansive Phenotype of VCFS | p. 21 |
| Craniofacial Anomalies | p. 22 |
| Ear and Hearing Anomalies | p. 40 |
| The Nose | p. 48 |
| Eye Findings | p. 52 |
| Cardiac Findings | p. 61 |
| Vascular Anomalies | p. 70 |
| Brain and Central Nervous System Anomalies | p. 77 |
| Pharyngeal, Laryngeal, and Airway Anomalies | p. 87 |
| Abdominal and Visceral Anomalies | p. 98 |
| Limb Anomalies | p. 102 |
| Problems in Infancy | p. 106 |
| Genitourinary Anomalies | p. 115 |
| Skeletal, Muscle, Spine, and Orthopedic Anomalies | p. 117 |
| Skin and Hair Findings | p. 125 |
| Endocrine and Immune Findings | p. 125 |
| Speech and Language Disorders | p. 131 |
| Cognitive, Learning, and Attentional Disorders | p. 139 |
| Psychiatric Disorders | p. 145 |
| Miscellaneous Anomalies | p. 152 |
| Secondary Developmental Sequences | p. 154 |
| Why the Expansive Phenotype? | p. 158 |
| The Genetics of VCFS | p. 171 |
| What Does Genetic Mean? | p. 172 |
| Mode of Inheritance | p. 172 |
| Describing the Genome at 22q11.2 | p. 172 |
| Determining the Nature of the Deletion in VCFS | p. 174 |
| How the Deletion Occurs | p. 176 |
| Identifying the Genes in the Deleted Region | p. 180 |
| Determining What the Genes Do, Identifying | p. 181 |
| Candidate Genes for Specific Phenotypes, and Identifying Polymorphisms | |
| Animal Models and Knockouts | p. 189 |
| How Is a Deletion Different from Other Mutations? | p. 191 |
| Genetic Effects Outside of the 22q11.2 Region that Contribute to the Phenotype | p. 192 |
| Epigenetic Factors that Might Contribute to the Phenotypic Spectrum | p. 193 |
| Genetic Counseling for VCFS | p. 195 |
| Mosaicism and Germline Mosaicism | p. 196 |
| Counseling for People with VCFS | p. 197 |
| Triage in VCFS: Utilizing the Natural History | p. 201 |
| Audiology (Hearing Testing) | p. 202 |
| Cardiology (Pediatric Cardiology) | p. 203 |
| Cardiothoracic Surgery | p. 204 |
| Clinical Genetics and Genetic Counseling | p. 205 |
| Dentistry and Orthodontics | p. 206 |
| Developmental Pediatrics | p. 207 |
| Endocrine Evaluation | p. 208 |
| Gastroenterology (Pediatric Gastroenterology) | p. 209 |
| Immunology Evaluation | p. 210 |
| Magnetic Resonance Imaging and Angiography | p. 211 |
| Nasopharyngoscopy, FEES or FEESST, Direct Laryngoscopy, Bronchoscopy, Esophagoscopy, and Gastroscopy | p. 212 |
| Nephrology | p. 214 |
| Nephrology | p. 215 |
| Neuropsychology | p. 215 |
| Neurosurgical Evaluation | p. 215 |
| Nutrition | p. 216 |
| Ophthalmology (Pediatric Ophthalmology) | p. 216 |
| Orthopedics | p. 217 |
| Otolaryngology | p. 217 |
| Physical Therapy | p. 218 |
| Podiatry | p. 218 |
| Psychiatry | p. 219 |
| Pulmonology (Pediatric Pulmonology) | p. 220 |
| Reconstructive Surgery | p. 220 |
| Renal Ultrasound | p. 221 |
| Speech-Language Evaluation | p. 221 |
| Urology | p. 222 |
| Videofluoroscopy for Speech | p. 222 |
| Videofluoroscopy for Swallowing | p. 223 |
| Growth, Weight Gain, and Feeding | p. 227 |
| Is Short Stature a Feature of VCFS? | p. 227 |
| Significance of these Data and the Growth Curve | p. 244 |
| Possible Flaws in the Data | p. 246 |
| Implications | p. 247 |
| Feeding Therapy | p. 248 |
| Emesis and Spitting Up through the Nose | p. 249 |
| Feeding Time (Duration) | p. 250 |
| Feeding Position | p. 251 |
| Type of Bottle and Nipple | p. 251 |
| Burping | p. 254 |
| Identifying and Understanding the Factors Leading to Problems | p. 254 |
| What If the Child Already Has a Tube? | p. 257 |
| Clinical Synopsis of VCFS | p. 261 |
| Index | p. 269 |
| Table of Contents provided by Ingram. All Rights Reserved. |
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