Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Se la conosci la riconosci

La sindrome CHARGE

Silvia Tajč1, Paola Cianci2, Angelo Selicorni1

1Clinica Pediatrica, Fondazione MBBM, Ospedale “San Gerardo”, Universitŕ Milano Bicocca, Monza
2Clinica Pediatrica, Ospedale “F. Del Ponte”, Universitŕ “Insubria” Varese-Como, Varese

Novembre 2017 - pagg. 585 -586

Suggerite dall'AI
Cardiopatia congenita CHARGE syndrome Congenital heart defects Ipoacusia neurosensoriale Sensorineural hearing loss
Classificazione MeSH
Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Sensation Disorders Hearing Disorders Hearing Loss
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Respiratory System Abnormalities Choanal Atresia (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Eye Abnormalities Coloboma (4)
Nervous System Diseases Cranial Nerve Diseases (16)
Mental Disorders Neurodevelopmental Disorders Developmental Disabilities (37)
Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Paralysis Facial Paralysis (21)
Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Sensation Disorders Hearing Disorders Hearing Loss
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Cardiovascular Abnormalities Heart Defects, Congenital (64)
Leggi anche
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Apuril E, Mariani M, Selicorni A. · 2024
CHARGE Syndrome/Coloboma, Coloboma
RI Pagine elettroniche ; Caso Contributivo
Quando il bambino non fissa lo sguardo
E. Rubinato, F. Parentin, G. Gortani, M. Spaccini · 2010
CHARGE Syndrome, Coloboma, Cranial Nerve Diseases/Nystagmus, Pathologic
RI Se la conosci la riconosci
La sindrome di Stickler
Cazzaniga L, Abramo M, Selicorni A. · 2024
Hearing Loss, Sensorineural
RI Pagine elettroniche
Paralisi periferica bilaterale del VII nervo cranico da infezione da virus di Epstein-Barr
Evasi V, Mariani E, Roncareggi S, Paredi M, Valsec · 2023
Cranial Nerve Diseases, Facial Paralysis
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Bibliografia
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 2011;48(5):334-42. • Blake KD, Davenport SLH, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr 1998; 37:159-73. • Dobbelsteyn C, Peacocke SD, Blake K, et al. Feeding difficulties in children with CHARGE syndrome: prevalence, risk factors, and prognosis. Dysphagia 2008;23(2):127-35. • Hsu P, Ma A, Wilson M, Williams G, et al. CHARGE syndrome: a review. J Paediatr Child Health 2014;50(7):504-11. • Issekutz KA, Graham JM, Prasad C, et al. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A 2005;133A(3):309-17. • Lalani SR, Hefner MA, Belmont JW, Davenport SLH. CHARGE syndrome. GeneReviews 2012. • Santoro L, Ficcadenti A, Zallocco F, et al. Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: an Italian experience. Am J Med Genet A 2014;164A:3042-51. • Verloes A. Update diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 2005;133:306-8. • Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K. Prevalence of semicircular canal hypoplasia in patients with CHARGE syndrome: 3C syndrome. JAMA Otolaryngol Head Neck Surg 2017;143(2):168-77.

Corrispondenza: angelo.selicorni61@gmail.com