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XVI INTERNATIONAL SCIENTIFIC MEETING VCFS E.F. INC. ROME 3-5 LUGLIO 2009. VELOCARDIOFACIAL SYNDROME A REVIEW OF 75 CASES OPERATED BY PHARYNGOPLASTY. Maurizio Accordi. Sabrina Agnelli. CENTRO MEDICO DI FONIATRIA PADOVA - ITALY. VELOCARDIOFACIAL SYNDROME. Typical facies
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XVI INTERNATIONAL SCIENTIFIC MEETING VCFS E.F. INC. ROME 3-5 LUGLIO 2009 VELOCARDIOFACIAL SYNDROME A REVIEW OF 75 CASES OPERATED BY PHARYNGOPLASTY MaurizioAccordi Sabrina Agnelli CENTRO MEDICO DI FONIATRIA PADOVA - ITALY
VELOCARDIOFACIAL SYNDROME Typical facies Palatal malformations Heart malformations Delayed language development Learning difficulties
VELOCARDIOFACIAL SYNDROME • Typical facies • Palatal malformations • Heart malformations • Delayed language development • Learning difficulties
VELOCARDIOFACIAL SYNDROME • Behavioral problems • Psicological problems • Eye problems • Otitis media • Hypoparathyroidism • Immunodeficiency • Low stature • Scoliosis • Cognitive impairment
FACIES • Hypotonic hypotrophic upper lip • Hypertelorism • Broad nasal root • Bulbous nasal tip • Almond shaped narrow palpebral fissures • Elongated face • Small ears • Receding clin
PALATE PATHOLOGIES • Cleft palate (with or without cleft lip) • Submucous cleft • Velar hypoplasia • Velar hypomotility
HEART PATHOLOGIES • DIV • DIA • Tetralogy of Fallot • Botallo ductus arteriosus • Pulmunary artery atresia • Incompetence of mitral or pulmonary valve
PALATE PATHOLOGIES 75 cases (1984-2008) Cleft palate (with or without cleft lip) 18 Submucous cleft 3 Velar hypoplasia 32 Velar hypomotility 22
HEART PATHOLOGIES 75 cases (1984-2008) DIV 21 DIA 10 Tetralogy of Fallot 9 Patent Botallo ductus 6 Mitral incompetence 4 DIV + Botallo 3 Transposition great vessels 2 Bundle branch block 2 Cardiac murmur 18
MULTIDIMENSIONAL EVALUATION • Neuropsychiatric • Cognitiv • Audiological • Linguistic
LANGUAGE DEVELOPMENT Insufficient 51 (68%)
NEUROMOTOR EVALUATION Insufficient 10 (13,3%)
AUDIOLOGIC EVALUATION Conductive hearing loss 28 (37,3%)
COGNITIV LEVEL Insufficient or border line 46 (61,3%)
CONCURRENT MALFORMATIONS Congenital cubfoot 3 Monolateral inferior VII NC. paralysis 3 Agenesia of corpus callosum 2 Uvea coloboma 2 Syndactyly 3 Hypospadia 1 Aesophageal atresia 1
FONETIC EVALUATION 1st CLASS No nasal escape No typical articulatory disorders 2nd CLASS No nasal escape Typical articulatory disorders 3rd CLASS Inconsistent nasal escape Inconsistent articulatory deficits 4th CLASS Nasal escape No typical articulatory disorders 5th CLASS Nasal escape Typical articulatory disorders
RESULTS SURGERY + SLT in 75 cases I class 23 (30,6%)