Problemi speciali
Approccio metodologico “di base” al bambino con sospetta sindrome malformativa
Methodological approach to the child with possible malformative syndrome
Paola Cianci1, Federica Zanetto2, Angela Biolchini2, Angelo Selicorni3
1Scuola di Specializzazione in Pediatria, Università Insubria di Varese-Como, Clinica Pediatrica Ospedale F. Del Ponte, Varese; 2Pediatra di famiglia, ASL Monza Brianza; 3UOS di Genetica Clinica Pediatrica, Fondazione MBBM, Clinica Pediatrica, Monza
Gennaio 2016 - pagg. 27 -33
Abstract
The diagnosis of a genetic syndrome is very important in the life of a child and of their
family for various reasons. Thus, paediatricians should be alert because the possible
starting manifestations of a syndrome are really very different and variable. Sometimes
the clinical picture is absolutely clear, sometimes the patient has apparently only one
major problem (major malformation, psychomotor delay, growth abnormality, functional
deficit like hypoacusis). The paper describes the methodological approach that every
paediatricians should consider in front of a child with one or more alarm clinical signs
in order to suspect a specific diagnosis or to be convinced that a specialized evaluation
is mandatory for their patient. Although it is not the paediatrician's duty to do the specific
diagnosis of a child with a possible malformative syndrome, it is absolutely mandatory
that they have the first suspicion and thus start the diagnostic route.
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Classificazione MeSH
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Bibliografia
di riferimento
• Aase J. Diagnostic dysmorphology: an approach
to the child with congenital anomalies.
New York: Kluwer Academic/Plenum Publishers,
1990.
• Allanson JE, Hall JG, Hughes HE, Preus M,
Witt RD. Noonan syndrome: the changing
phenotype. Am J Med Genet 1985;21:507-14.
• Angulo MA, Butler MG, Cataletto ME. Prader-
Willi syndrome: a review of clinical, genetic,
and endocrine findings. J Endocrinol Invest
2015;38(12):1249-63.
• Bokinni Y. Kabuki syndrome revisited. J
Hum Genet 2012;57:223-7.
• Griggs J, Sinnayah P, Mathai ML. Prader-
Willi syndrome: from genetics to behaviour,
with special focus on appetite treatments.
Neurosci Biobehav Rev 2015;59:155-72.
• Izumi K, Krantz ID. Pallister-Killian syndrome.
Am J Med Genet C Semin Med Genet
2014;166C(4):406-13.
• Kline AD, Krantz ID, Sommer A, et al. Cornelia
de Lange syndrome: clinical review, diagnostic
and scoring systems, and anticipatory
guidance. Am J Med Genet A 2007;143A(12):
1287-96.
• Mannini L, Cucco F, Quarantotti V, Krantz
ID, Musio A. Mutation spectrum and genotype-
phenotype correlation in Cornelia de Lange
syndrome. Hum Mutat 2013;34:1589-96.
• McCandless SE; Committee on Genetics.
Clinical report-health supervision for children
with Prader-Willi syndrome. Pediatrics 2011;
127(1):195-204.
• Morris CA, Demsey SA, Leonard CO, Dilts
C, Blackburn BL. Natural history of Williams
syndrome: physical characteristics. J Pediatr
1988;113:318-26.
• Parker M, Bitner-Glindzicz M. Genetic investigations
in childhood deafness. Arch Dis
Child 2015;100(3):271-8.
• Pober BR. Williams-Beuren syndrome. N
Engl J Med 2010;362(3):239-52.
• Roberts AE, Allanson JE, Tartaglia M, Gelb
BD. Noonan syndrome. Lancet 2013;381(9863):
333-42.
• Rosas-Blum E, Shirsat P, Leiner M. Communicating
genetic information: a difficult
challenge for future pediatricians. BMC Med
Educ 2007;7-17.
• Selicorni A, Zampino G, Memo L, Scarano
G. Le sindromi malformative. Una guida per
il pediatra. Pacini editore, 2013.
• Special Issue: Elements of Morphology:
Standard Terminology Am J Med Genet Part
A Volume 149A, Issue 1, pages 1-127 Jan 2009.
• Srour M, Shevell M. Genetics and the investigation
of developmental delay/intellectual
disability. Arch Dis Child 2014;99(4):386-9.
• Tarini BA, Zikmund-Fisher BJ, Saal HM, Edmondson
L, Uhlmann WR. Primary care providers’
initial evaluation of children with global
developmental delay: a clinical vignette study.
J Pediatr 2015;167(6):1404-1408.e1.
• Wilkens A, Liu H, Park K, et al. Novel clinical
manifestations in Pallister-Killian syndrome:
comprehensive evaluation of 59 affected
individuals and review of previously reported
cases. Am J Med Genet A 2012;158A(12):3002-
17.
• www.orpha.net
• www.genereviews.org
Corrispondenza: angelo.selicorni61@gmail.com