Open AccessCamptodactyly in Sotos syndrome
Author(s) -
Sumita Danda,
MC Mathew,
S.M. Bain,
S. Palnok
Publication year - 2007
Publication title -
indian journal of human genetics
Language(s) - English
Resource type - Journals
eISSN - 0971-6866
pISSN - 1998-362X
DOI - 10.4103/0971-6866.34711
Subject(s) - sotos syndrome , camptodactyly , girl , medicine , genetics , pediatrics , biology
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.