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Genetische oorzaken van kleine lengte

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Tijdschrift voor Kindergeneeskunde

Samenvatting

De volwassen lengte wordt voor het grootste deel bepaald door genetische factoren. Veel van deze factoren hebben een klein effect op de lengtegroei. In het diagnostisch proces bij een groeiachterstand is het vooralsnog alleen mogelijk onderzoek te doen naar de erfelijke factoren die juist een groot effect hebben. Alvorens hiertoe over te gaan, is het van belang om via anamnese, familieanamnese, lichamelijk onderzoek en eventueel radiologisch onderzoek de groeiachterstand goed te karakteriseren. Daarbij is het van belang te letten op lichaamsproporties, op dysmorfe kenmerken en/of aangeboren afwijkingen en op het begin van de groeiachterstand (preof postnataal). Bij afwijkende lichaamsproporties (met name korte ledematen ten opzichte van de romp) bestaat er een verdenking op een skeletdysplasie, bij dysmorfe kenmerken en/of aangeboren afwijkingen moet een syndromale oorzaak van kleine lengte worden overwogen, terwijl bij een laag gewicht of kleine lengte bij de geboorte, zonder inhaalgroei, aandacht moet worden besteed aan IGF-I en de IGF-I-receptor. Vanwege het belang van een diagnose voor prognose en mogelijke therapie kan bij blijvende onduidelijkheid over de oorzaak van de kleine lengte de expertise gevraagd worden van een speciale polikliniek of (internationale) werkgroepen. Als ook dan de diagnose niet kan worden gesteld, is het zinvol het kind na een aantal jaren terug te zien en de groei opnieuw te analyseren, omdat er nieuwe syndromen dan wel nieuwe inzichten in bestaande aandoeningen kunnen zijn beschreven, maar ook vanwege de voortschrijdende vernieuwing van onderzoekstechnieken.

Summary

Most of the variation in adult height is genetically controlled. The vast majority of the genetic factors that influence stature have a small effect. In the diagnostic workup for short stature it is only possible to analyze the genes that have a large effect on growth. However, before considering genetic analysis, it is crucial to characterize the growth retardation carefully by taking the patient history and the family history, a physical examination and sometimes radiological imaging. In this process it is important to pay attention to body proportions, dysmorphic features and/or congenital anomalies, and whether the growth retardation was already present at birth. In the case of disproportion (mostly short arms and legs compared to the trunk) a skeletal dysplasia is suspected, while in the coexistence of dysmorphic features and/or congenital anomalies (next to short stature) a syndromic form of growth retardation is more likely. When the patient is small for gestational age without catch-up growth, one has to consider anomalies of IGF-I or the IGF-I receptor. Reaching a diagnosis is important for prognosis and possible therapy.When no diagnosis can be made, it is recommended to consult experts from specialized outpatient clinics or (international) working groups. If still no diagnosis can be reached the advice is to see the child again in 2-3 years’ time and analyze the growth retardation once more, because new syndromes or additional insights in known disorders can be described by then, but also because of the ongoing development of molecular techniques.

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Authors and Affiliations

  1. afdeling Klinische Genetica, LUMC, 9600, 2300 RC, Leiden, The Netherlands

    Sarina G. Kant

  2. afdeling Kindergeneeskunde,, VUmc, Amsterdam, The Netherlands

    Marie-José Walenkamp

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  1. Sarina G. Kant
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  2. Marie-José Walenkamp
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Correspondence to Sarina G. Kant.

Additional information

Mw. dr. Sarina G. Kant, afdeling Klinische Genetica, LUMC, Leiden. Mw. dr. Marie-Jose´ Walenkamp, afdeling Kindergeneeskunde, VUmc, Amsterdam.

Correspondentieadres: S.G. Kant, afdeling Klinische Genetica, LUMC, Postbus 9600, 2300 RC Leiden, s.g.kant@lumc.nl.

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Kant, S., Walenkamp, MJ. Genetische oorzaken van kleine lengte. TIJDSCHR. KINDERGENEESKUNDE 82, 26–34 (2014). https://doi.org/10.1007/s12456-014-0004-1

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