The KBG syndrome: follow‐up data on three affected brothers

1994/10/01 by Dominique Soekarman, Philippe Volcke, Jean‐Pierre Fryns

paper · doi:10.1111/j.1399-0004.1994.tb04160.x

crossref issued 1994/10/01 · crossref published 1994/10/01 · crossref published-print 1994/10/01 · crossref published-online 2008/06/28 · crossref created 2010/07/19 · crossref deposited 2023/10/23 · crossref indexed 2026/07/28

Abstract

In this report we present follow‐up data on a family in which several members were found to have short stature, craniofacial anomalies and dento‐skeletal abnormalities (KBG‐syndrome). As adults, the three affected brothers of the original report are moderately to severely mentally retarded. Their phenotype with a distinct craniofacial appearance did not change much from that seen during childhood and adolescence. Adult height is far below the third centile, with arm spans exceeding stature by at least 9 cm.

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