Camptodactyly in Sotos syndrome.

Abstract

We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic.

• Authors: S Danda, M C Mathew, S M Bain, S Palnok
• Journal: Indian journal of human genetics (Indian J Hum Genet) Vol. 13 Issue 2 Pg. 73-5 (May 2007) ISSN: 0971-6866 [Print] India
• PMID: 21957350 (Publication Type: Case Reports)