Velo-Cardio-Facial Syndrome

by Shprintzen, Robert J.; Golding-Kushner, Karen J.; Higgins, Anne Marie (CON)

• ISBN13: 9781597560719
• ISBN10: 1597560715
• Edition: 1st
• Format: Paperback
• Copyright: 2008-07-30
• Publisher: Plural Pub Inc

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
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