TY  - BOOK
AU  - Shprintzen,Robert J.
AU  - Golding-Kushner,Karen J.
TI  - Velo-cardio-facial syndrome
T2  - Genetic syndromes and communication disorders series
SN  - 9781597567619
PY  - 2008///]
CY  - San Diego
PB  - Plural Publishing, Inc.
KW  - Velocardiofacial syndrome
KW  - Genetic disorders
KW  - Medicine
N1  - Includes bibliographical references and index; 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; 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; 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; 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; 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
N2  - 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
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