title: 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.affiliation: Clinical Genetics Unit and Department of Developmental Pediatrics, Christian Medical College and Hospital Vellore, Tamilnadu, India.
authors.forename: S
authors.initials: S
authors.lastname: Danda
authors.forename: M C
authors.initials: MC
authors.lastname: Mathew
authors.forename: S M
authors.initials: SM
authors.lastname: Bain
authors.forename: S
authors.initials: S
authors.lastname: Palnok