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Wachstumsstörungen als Leitsymptom

Growth retardation as a cardinal symptom

Zusammenfassung

Kleinwuchs als Leitsymptom stellt eine häufige Fragestellung sowohl in der humangenetischen als auch in der pädiatrischen Sprechstunde dar. Definiert ist Kleinwuchs als eine Körperhöhe unter der 3. Perzentile der Norm bzw. unter −2 Standardabweichungen. Diese macht sich bemerkbar durch Änderungen der Wachstumsgeschwindigkeit oder des Wachstumsverlaufs, welche grundsätzlich genetisch determiniert, jedoch auch von sekundären Faktoren beeinflussbar sind. Das Spektrum der zugrunde liegenden genetischen Ursachen reicht von Störungen der Wachstumshormonsekretion und -wirkung über Skelettdysplasien bis hin zu komplexen Fehlbildungssyndromen. Die genetische Abklärung stellt somit einen Grundpfeiler zur Beurteilung der Prognose und einer möglichen therapeutischen Intervention dar. Es werden die grundlegenden diagnostischen Überlegungen anhand häufiger Differenzialdiagnosen, deren genetischen Grundlagen und Behandlungsmöglichkeiten aufgeführt: Ullrich-Turner-Syndrom, Léri-Weill-Syndrom, Silver-Russell-Syndrom, Noonan-Syndrom und Achondroplasie.

Abstract

Short stature is a frequently encountered question in both the genetic and the pediatric clinic. The definition of short stature includes a body length/height below the 3rd percentile or of more than two standard deviations below the mean. The velocity of growth as well as growth patterns are fundamentally regulated by genetic factors, but may be modified by secondary effects. The spectrum of short stature syndromes includes disorders of growth hormone secretion or effect, skeletal dysplasias and complex malformation syndromes. Identifying the underlying defect greatly facilitates counseling about prognosis and possible management. The most relevant syndromes in daily clinical routine are discussed here: Turner syndrome, Léri-Weill syndrome, Russel-Silver syndrome, Noonan syndrome, and achondroplasia.

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Danksagung

Wir danken allen Patienten und Eltern für ihr Einverständnis zur Veröffentlichung der Fotos. Außerdem bedanken wir uns bei Helmuth-Günther Dörr und Martin Zenker für ihre Kooperation und hilfreichen kritischen Diskussionen.

Interessenkonflikt

Der korrespondierende Autor weist für sich und seine Koautoren auf folgende Beziehung(en) hin: Von Norvartis gesponserte Studie zur Behandlung des fragilen X-Syndroms.

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Correspondence to A. Rauch.

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Thiel, C., Rauch, A. Wachstumsstörungen als Leitsymptom. medgen 24, 123–137 (2012). https://doi.org/10.1007/s11825-012-0331-2

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Schlüsselwörter

  • Wachstumsstörung
  • Kleinwuchs
  • Wachstumshormon
  • Skelettdysplasie
  • Fehlbildungen

Keywords

  • Growth retardation
  • Short stature
  • Growth hormone
  • Skeletal dysplasia
  • Malformations