Klinische Syndromologie. Erkennen und Eingliedern morphologischer Fehlbildungssyndrome in der pädiatrischen Genetik

Schmidt, H. (2019): Klinische Syndromologie. Erkennen und Eingliedern morphologischer Fehlbildungssyndrome in der pädiatrischen Genetik. In: Monatsschrift Kinderheilkunde, Bd. 168, Nr. 1: S. 21-27

Abstract

Clinical syndromology is concerned with the seeing or recognition and classification of morphological malformation syndromes. Dysmorphology serves as the basis and requires knowledge of the normal appearance. Deviations (disorders of morphogenesis) must be recognized and converted into the appropriate terminology in order to enable the classification. The definition of morphological defects according to causal aspects and the establishment of a recognized uniform terminology set the fundamental course for interdisciplinary cooperation and the explosive development of the genetics. Disorders of morphogenesis are classified into single defects (malformation, disruption, deformation and dysplasia) and multiple defects (sequence, syndrome and association). This article contains basic definitions for use in the clinical routine, the instructions for a purely clinical approach in the classification of known or discovery and description of still unknown morphological alterations. It also contains indications for the possibly necessary aids from the perspective of a clinical pediatrician and based on a real case example.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0026-9298
• Sprache: Deutsch