000			05504cam a2200613Ii 4500
001			ocn906186134
003			OCoLC
005			20221128212839.0
006			m d
007			cr cn|||||||||
008			150316t20082008caua ob 001 0 eng d
040			_aE7B _beng _erda _epn _cE7B _dOCLCO _dN$T _dEBLCP _dOCLCF _dOCLCQ
019			_a902958019
020			_a9781597567619 _q(electronic bk.)
020			_a1597567612 _q(electronic bk.)
020			_z9781597560719
035			_a944616 _b(N$T)
035			_a(OCoLC)906186134 _z(OCoLC)902958019
072		7	_aHEA _x039000 _2bisacsh
072		7	_aMED _x014000 _2bisacsh
072		7	_aMED _x022000 _2bisacsh
072		7	_aMED _x112000 _2bisacsh
072		7	_aMED _x045000 _2bisacsh
049			_aMAIN
100	1		_aShprintzen, Robert J., _eauthor.
245	1	0	_aVelo-cardio-facial syndrome. _nVolume I / _c _h[E-Book]
264		1	_aSan Diego : _bPlural Publishing, Inc., _c[2008]
300			_a1 online resource (297 pages) : _billustrations.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
490	1		_aGenetic syndromes and communication disorders series
504			_aIncludes bibliographical references and index.
588	0		_aOnline resource; title from PDF title page (ebrary, viewed March 16, 2015).
505	0		_aPreface; 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		_aProblems 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		_aDetermining 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		_aClinical 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		_aSppech-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			_aVelo-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			_aMaster record variable field(s) change: 050
650		0	_aVelocardiofacial syndrome.
650		4	_aGenetic disorders.
650		4	_aMedicine.
650		4	_aVelocardiofacial syndrome.
700	1		_aGolding-Kushner, Karen J., _eauthor.
830		0	_aGenetic syndromes and communication disorders series.
856	4	0	_uhttps://search.ebscohost.com/login.aspx?custid=ns123844&authtype=ip,shib&direct=true&scope=site&db=nlebk&db=nlabk&AN=944616 _yKingston Hospital NHS Foundation Trust OpenAthens account holders click here for access
938			_aEBL - Ebook Library _bEBLB _nEBL1936445
938			_aebrary _bEBRY _nebr11018131
938			_aEBSCOhost _bEBSC _n944616
942			_n0
994			_a92 _bN$T
999			_c92118 _d92118