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GAZZETTA MEDICA ITALIANA ARCHIVIO PER LE SCIENZE MEDICHE
A Journal on Internal Medicine and Pharmacology
Indexed/Abstracted in: BIOSIS Previews, EMBASE, Scopus, Emerging Sources Citation Index
Gazzetta Medica Italiana Archivio per le Scienze Mediche 2000 February;159(1):1-9
Clinical findings in malformation syndromes. Note 1: somatic aspects
Guido E., Mascagni E., Nannelli P., Cattaneo C., Del Grosso M.
Università degli Studi - Siena, Scuola di Specializzazione in Ortognatodonzia
Rarely the diagnosis of a craniofacial malformation can be made at the moment of the visit: the situations where apparently normal individuals as a matter of fact are diagnosed as having incomplete forms of malformation syndromes are frequent. Therefore, the observation of small changes from normal can be useful for the diagnosis leading to non-evident malformation forms. In this regard, the objective examination plays a fundamental role in planning a correct diagnosis and therapy. This paper describes the different clinical findings observed in patients diagnosed as having craniosynostosis syndromes and malformations of the first and the second branchial arch: in particular, calvarial and extremity (hands and feet) deformities and possible cutaneous anomalies and aberrations of piliferous growth. The importance of the research not only of the maior anomalies, but also of the minor anomalies as diagnostic aids for malformation syndromes, is emphasized; the non-specificity of individual alteration is also underlined, since disorders that are etiologically heterogeneous may show similar phenotypes, and, consequently, the necessity of finding associated malformations to make a correct diagnosis. When the syndrome is identified, it will be possible foresee its clinical evolution and, then, the therapy. In this connection, the knowledge of the different clinical pictures is important as well as the collaboration among different specialists, in order to improve the patients’clinical conditions.